{
  "schema_version": "2.0",
  "record_type": "dataset",
  "tier": "verified",
  "slug": "gnomad",
  "name": "gnomAD",
  "summary": {
    "en": "License: permissive (CC0-1.0); restricted part present; Mdexa hosting: link-only. main part permissive; separable restricted part(s) recorded in license_parts",
    "zh": "许可证声明：宽松（CC0-1.0）；含受限部分；本站处理：只链接原出处。主体部分宽松，可分离的受限部分已逐部分记录。"
  },
  "systems": [
    "modern-medicine"
  ],
  "domains": [
    "genomics-omics"
  ],
  "content_types": [
    "database"
  ],
  "content_description": {
    "en": "gnomAD data are released openly and publicly for the wider biomedical community; primary exome and genome data are free of restrictions under the Creative Commons Zero Public Domain Dedication.",
    "zh": "gnomAD数据面向生物医学界公开免费发布，外显子组与基因组主要数据在CC0公共领域奉献下无限制使用。"
  },
  "languages": [
    "en"
  ],
  "modalities": [
    "tabular"
  ],
  "size": {
    "raw": null,
    "measures": []
  },
  "publisher": "The Broad Institute, Inc.",
  "year": {
    "value": null,
    "raw": null
  },
  "license": {
    "legacy_status": "pending",
    "spdx": "CC0-1.0",
    "commercial_use": "yes",
    "derivatives": "yes",
    "redistribution": "yes",
    "rationale": {
      "en": "main part permissive; separable restricted part(s) recorded in license_parts",
      "zh": "主体部分宽松，可分离的受限部分已逐部分记录"
    },
    "evidence": [
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "All data here are released openly and publicly for the benefit of the wider biomedical community.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "There are absolutely no restrictions or embargoes on the publication of results derived from gnomAD data.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "All users of gnomAD data agree to not attempt to reidentify participants.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "The primary data from the gnomAD exomes and genomes are available free of restrictions under the Creative Commons Zero Public Domain Dedication.",
        "spdx": "CC0-1.0",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "Screenshots of the website may also be used without restriction.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "Some annotations may have restrictions on usage. For instance, SpliceAI annotations have been computed by Illumina and are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use SpliceAI.",
        "spdx": "CC-BY-NC-4.0",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "we ask that you refrain from incorporating \"gnomAD\" or \"Genome Aggregation Database'' into the name of your tool and from using the gnomAD logo without permission.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "gnomAD™ is a trademark owned by The Broad Institute, Inc.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "It is the responsibility of users to abide by all relevant licensing requirements.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "Some annotations may have restrictions on usage.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      },
      {
        "location": "terms-page",
        "location_detail": {
          "en": "Statement found in snapshot s01 (terms-page)",
          "zh": "在快照 s01（terms-page）中找到的声明"
        },
        "excerpt": "For instance, SpliceAI annotations have been computed by Illumina and are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use SpliceAI.",
        "url": "https://gnomad.broadinstitute.org/terms",
        "verified_on": "2026-11-13",
        "snapshot_id": "s01",
        "observed": "page",
        "captured_by": "browser-agent",
        "capturer": "browser-agent",
        "captured_at": "2026-11-13",
        "page_title": "Policies | gnomAD",
        "final_url": "https://gnomad.broadinstitute.org/policies",
        "text_sha256": "848352c741c2699fa00f4b34f0e61d165fd0edb15c9a7e22ebb36d267f594b0f"
      }
    ],
    "license_conditions": [
      "notice-required",
      "no-reidentification"
    ],
    "license_parts": [
      {
        "name": {
          "en": "primary data from the gnomAD exomes and genomes",
          "zh": "primary data from the gnomAD exomes and genomes"
        },
        "spdx": "CC0-1.0",
        "status": "permissive",
        "separable": true,
        "evidence": {
          "excerpt": "The primary data from the gnomAD exomes and genomes are available free of restrictions under the Creative Commons Zero Public Domain Dedication.",
          "url": "https://gnomad.broadinstitute.org/terms",
          "snapshot_id": "s01"
        }
      },
      {
        "name": {
          "en": "Screenshots of the website",
          "zh": "Screenshots of the website"
        },
        "spdx": "NOASSERTION",
        "status": "permissive",
        "separable": true,
        "evidence": {
          "excerpt": "Screenshots of the website may also be used without restriction.",
          "url": "https://gnomad.broadinstitute.org/terms",
          "snapshot_id": "s01"
        }
      },
      {
        "name": {
          "en": "SpliceAI annotations",
          "zh": "SpliceAI annotations"
        },
        "spdx": "CC-BY-NC-4.0",
        "status": "restricted",
        "separable": true,
        "license_conditions": [
          "attribution"
        ],
        "evidence": {
          "excerpt": "Some annotations may have restrictions on usage. For instance, SpliceAI annotations have been computed by Illumina and are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use SpliceAI.",
          "url": "https://gnomad.broadinstitute.org/terms",
          "snapshot_id": "s01"
        }
      }
    ],
    "has_restricted_parts": true,
    "notes": {
      "en": "pointer to full license text not read: It is the responsibility of users to abide by all relevant licensing requirements. This part could not be retrieved: the later sections of the gnomAD terms page (privacy policy draft, ethics policy, data preservation, data generation, low-frequency allele count statement, citation in publications). The conclusion rests on the part that was retrieved, which holds the CC0 statement and the notes on separate parts.",
      "zh": "pointer to full license text not read: It is the responsibility of users to abide by all relevant licensing requirements. 以下部分未能取到：gnomAD 条款页的后半部分（隐私政策草案、伦理政策、数据保存、数据生成、低频等位基因计数声明、论文引用）。结论依据已取到的前半部分，其中含 CC0 声明与分部分说明。"
    },
    "review": {
      "method": "rules-plus-second-pass-model",
      "method_label": {
        "en": "Judged by public rules and checked a second time before listing.",
        "zh": "按公开规则判定，经二次核对后收录。"
      },
      "readings": [
        {
          "restatement": {
            "en": "main part permissive; separable restricted part(s) recorded in license_parts",
            "zh": "主体部分宽松，可分离的受限部分已逐部分记录"
          },
          "quotes": [
            {
              "excerpt": "All data here are released openly and publicly for the benefit of the wider biomedical community.",
              "snapshot_id": "s01",
              "url": "https://gnomad.broadinstitute.org/terms"
            },
            {
              "excerpt": "There are absolutely no restrictions or embargoes on the publication of results derived from gnomAD data.",
              "snapshot_id": "s01",
              "url": "https://gnomad.broadinstitute.org/terms"
            },
            {
              "excerpt": "All users of gnomAD data agree to not attempt to reidentify participants.",
              "snapshot_id": "s01",
              "url": "https://gnomad.broadinstitute.org/terms"
            },
            {
              "excerpt": "The primary data from the gnomAD exomes and genomes are available free of restrictions under the Creative Commons Zero Public Domain Dedication.",
              "snapshot_id": "s01",
              "url": "https://gnomad.broadinstitute.org/terms"
            }
          ],
          "values": {
            "license_status": "permissive",
            "commercial_use": "yes",
            "derivatives": "yes",
            "redistribution": "yes"
          },
          "source": "rules"
        }
      ],
      "adopted": 0,
      "second_pass": {
        "reviewer": "model-second-pass",
        "reviewed_at": "2026-11-13",
        "overall": "stricter",
        "agreed": true,
        "disagreement": null,
        "missed_restrictions": [
          {
            "excerpt": "It is the responsibility of users to abide by all relevant licensing requirements.",
            "snapshot_id": "s01",
            "effect": "使用者须遵守其他相关许可：支持注释部分 restricted。",
            "class": "D"
          }
        ],
        "routing": [
          "license_status: the reviewer's quote is not a class A sentence (Article 23), so the value is not changed",
          "missed sentence, class D: It is the responsibility of users to abide by all relevant licensing requirements."
        ]
      }
    }
  },
  "license_status": "permissive",
  "hosting": "link-only",
  "hosting_reason": {
    "en": "License permissive, judged by public rules and checked by a second-pass model. Link only.",
    "zh": "许可证状态：permissive，按公开规则判定并经第二遍模型复核。仅链接。"
  },
  "signoff": null,
  "risk_flags": [],
  "provenance": {
    "source_description": null,
    "upstream": []
  },
  "known_issues": [
    {
      "en": "Variant calling and filtering from short-read sequencing data is an imperfect and probabilistic process, so many errors may remain.",
      "zh": "短读长测序数据的变异检出与过滤是不完美的概率过程，仍可能存在许多错误。"
    }
  ],
  "preflight": {
    "status": "not-run"
  },
  "access": {
    "mdexa_download": null,
    "external_urls": [
      "https://gnomad.broadinstitute.org/",
      "https://gnomad.broadinstitute.org/policies"
    ],
    "notes": null
  },
  "citation": {
    "text": null,
    "references": []
  },
  "verification_level": "verified",
  "last_verified": "2026-11-13",
  "tags": [
    {
      "facet": "intended_use",
      "value": "retrieval-kb",
      "basis": "inferred",
      "inferred_from": "card-content-description",
      "excerpt": "You can freely download and search the data",
      "snapshot_id": "s01"
    }
  ],
  "changelog": [
    {
      "date": "2026-11-13",
      "change": {
        "en": "Listed on 2026-11-13. Judged by public rules and checked a second time before listing. This part could not be retrieved: the later sections of the gnomAD terms page (privacy policy draft, ethics policy, data preservation, data generation, low-frequency allele count statement, citation in publications). The conclusion rests on the part that was retrieved, which holds the CC0 statement and the notes on separate parts.",
        "zh": "2026-11-13 上架。按公开规则判定，经二次核对后收录。 以下部分未能取到：gnomAD 条款页的后半部分（隐私政策草案、伦理政策、数据保存、数据生成、低频等位基因计数声明、论文引用）。结论依据已取到的前半部分，其中含 CC0 声明与分部分说明。"
      }
    },
    {
      "date": "2026-11-14",
      "change": {
        "en": "Known defects, version notes and access statements from cited sources (papers, release notes, official pages) were added; each shows who said it, when, and what kind of source it is.",
        "zh": "补入来自所引来源（论文、发布说明、官方页面）的已知缺陷、版本说明与取用方式，每条标明出自谁、何时、来源类型。"
      }
    },
    {
      "date": "2026-11-14",
      "change": {
        "en": "Practical fields (scope, identifiers, access methods, versions, known defects) were added by the automated pipeline from stored page snapshots; every statement carries a verbatim quote.",
        "zh": "实用卡字段（内容范围、标识符、取用方式、版本、已知缺陷）由自动流水线根据已存快照添加，每条陈述带逐字引文。"
      }
    },
    {
      "date": "2026-11-14",
      "change": {
        "en": "Known defects, version notes and access statements from cited sources (papers, release notes, official pages) were added; each shows who said it, when, and what kind of source it is.",
        "zh": "补入来自所引来源（论文、发布说明、官方页面）的已知缺陷、版本说明与取用方式，每条标明出自谁、何时、来源类型。"
      }
    }
  ],
  "access_recipe": {
    "verified_on": "2026-11-14",
    "latest_release": {
      "version": "4.1.1",
      "date": null,
      "evidence": {
        "excerpt": "chr1 sites VCF, Google: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1.1/vcf/exomes/gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz",
        "snapshot_id": "s02",
        "url": "https://gnomad.broadinstitute.org/downloads"
      }
    },
    "files": [
      {
        "name": "chr1 sites VCF (Google)",
        "url": "https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1.1/vcf/exomes/gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz",
        "size_text": "17.56 GiB",
        "checksum": {
          "algorithm": "md5",
          "value": "2e08659636b631c38dae62c79553bc65"
        },
        "format": "VCF",
        "version": "4.1.1",
        "evidence": {
          "excerpt": "17.56 GiB, MD5: 2e08659636b631c38dae62c79553bc65",
          "snapshot_id": "s02",
          "url": "https://gnomad.broadinstitute.org/downloads"
        }
      },
      {
        "name": "chr1 sites VCF (Amazon)",
        "url": "https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.1.1/vcf/exomes/gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz",
        "size_text": "17.56 GiB",
        "checksum": {
          "algorithm": "md5",
          "value": "2e08659636b631c38dae62c79553bc65"
        },
        "format": "VCF",
        "version": "4.1.1",
        "evidence": {
          "excerpt": "chr1 sites VCF, Amazon: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.1.1/vcf/exomes/gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz",
          "snapshot_id": "s02",
          "url": "https://gnomad.broadinstitute.org/downloads"
        }
      },
      {
        "name": "chr1 sites VCF index (Google)",
        "url": "https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1.1/vcf/exomes/gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz.tbi",
        "size_text": null,
        "checksum": null,
        "format": "VCF index",
        "version": "4.1.1",
        "evidence": {
          "excerpt": "chr1 sites VCF index, Google: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1.1/vcf/exomes/gnomad.exomes.v4.1.1.sites.chr1.vcf.bgz.tbi",
          "snapshot_id": "s02",
          "url": "https://gnomad.broadinstitute.org/downloads"
        }
      }
    ],
    "api": [],
    "registration": null,
    "bulk_download": [
      {
        "command_text": "gsutil ls gs://gcp-public-data--gnomad/release/",
        "evidence": {
          "excerpt": "gsutil ls gs://gcp-public-data--gnomad/release/",
          "snapshot_id": "s02",
          "url": "https://gnomad.broadinstitute.org/downloads"
        }
      },
      {
        "command_text": "aws s3 ls s3://gnomad-public-us-east-1/release/",
        "evidence": {
          "excerpt": "aws s3 ls s3://gnomad-public-us-east-1/release/",
          "snapshot_id": "s02",
          "url": "https://gnomad.broadinstitute.org/downloads"
        }
      }
    ],
    "gaps": [],
    "license_note": {
      "license_status": "permissive",
      "text": "Use according to the terms of the official source; this recipe does not say the data can be used freely."
    }
  },
  "practical": {
    "content_scope": {
      "entities": [
        {
          "kind": "genomic variant allele frequency dataset",
          "count": 807162,
          "count_as_of": null,
          "statement": {
            "text": {
              "en": "The v4 release includes data from 807,162 total individuals.",
              "zh": "v4 发布包含来自 807,162 个个体的数据。"
            },
            "evidence": [
              {
                "location": "dataset-page",
                "excerpt": "Today, we are delighted to announce the release of gnomAD v4, which includes data from 807,162 total individuals.",
                "url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/",
                "snapshot_id": "s03",
                "char_start": 244,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "pipeline"
              }
            ]
          }
        }
      ],
      "coverage": [
        {
          "text": {
            "en": "The v4 data set contains data from 730,947 exomes and 76,215 whole genomes, all mapped to the GRCh38 reference sequence.",
            "zh": "v4 数据集包含 730,947 个外显子组和 76,215 个全基因组的数据，均比对到 GRCh38 参考序列。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "The gnomAD v4 data set contains data from 730,947 exomes and 76,215 whole genomes, all mapped to the GRCh38 reference sequence.",
              "url": "https://gnomad.broadinstitute.org/downloads",
              "snapshot_id": "s02",
              "char_start": 868,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "browser-agent"
            }
          ]
        },
        {
          "text": {
            "en": "The combined filtering allele frequency integrates variant allele frequencies across 734,947 exomes and 76,215 genomes.",
            "zh": "合并过滤等位基因频率整合了 734,947 个外显子组和 76,215 个基因组的变异等位基因频率。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "For the first time, in gnomAD v4.0, we released a combined filtering allele frequency (FAF), integrating variant allele frequencies across the 734,947 exomes and 76,215 genomes.",
              "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
              "snapshot_id": "s04",
              "char_start": 5000,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "pipeline"
            }
          ]
        },
        {
          "text": {
            "en": "The v4.1 callset includes 416,555 UK Biobank and 314,392 non-UK Biobank exomes.",
            "zh": "v4.1 调用集包括 416,555 个 UK Biobank 外显子组和 314,392 个非 UK Biobank 外显子组。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "The gnomAD v4.1 callset includes 416,555 UK Biobank and 314,392 non-UK Biobank exomes, requiring the use of two calling interval lists for processing and quality control pipelines.",
              "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
              "snapshot_id": "s04",
              "char_start": 3756,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "pipeline"
            }
          ]
        }
      ]
    },
    "identifiers": {
      "schemes": [
        {
          "name": "variant identifier as shown on the page",
          "bioregistry_prefix": null,
          "applies_to": "variants",
          "statement": {
            "text": {
              "en": "The page shows a variant identifier written as 1-55039909-TC-T in gnomAD v4.1.",
              "zh": "页面给出 gnomAD v4.1 中写作 1-55039909-TC-T 的变异标识符。"
            },
            "evidence": [
              {
                "location": "dataset-page",
                "excerpt": "This variant maps to 1-55039909-TC-T in gnomAD v4.1, where it still has an allele count of 1 (still present in only a single exome sample).",
                "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
                "snapshot_id": "s04",
                "char_start": 2421,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "pipeline"
              }
            ]
          }
        }
      ],
      "crosswalks": [
        {
          "to": "gnomAD v2.1.1",
          "to_slug": null,
          "statement": {
            "text": {
              "en": "The page gives 1-55505582-TC-T as an example of a variant present in gnomAD v2.1.1 only in the v2.1.1 exomes.",
              "zh": "页面举例说明变异 1-55505582-TC-T 在 gnomAD v2.1.1 中仅存在于 v2.1.1 外显子组。"
            },
            "evidence": [
              {
                "location": "dataset-page",
                "excerpt": "For example, 1-55505582-TC-T in gnomAD v2.1.1 is present only in the v2.1.1 exomes, and therefore the total AN at this site only contains information from the exomes.",
                "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
                "snapshot_id": "s04",
                "char_start": 2254,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "pipeline"
              }
            ]
          }
        }
      ],
      "mismatch_cases": [
        {
          "text": {
            "en": "The page states that 1-55505582-TC-T in gnomAD v2.1.1 is present only in the v2.1.1 exomes, and that this variant maps to 1-55039909-TC-T in gnomAD v4.1.",
            "zh": "页面称 1-55505582-TC-T 在 gnomAD v2.1.1 中仅存在于 v2.1.1 外显子组，并称该变异在 gnomAD v4.1 中对应 1-55039909-TC-T。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "1-55505582-TC-T in gnomAD v2.1.1 is present only in the v2.1.1 exomes, and therefore the total AN at this site only contains information from the exomes. This variant maps to 1-55039909-TC-T in gnomAD v4.1",
              "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
              "snapshot_id": "s04",
              "char_start": 2267,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "pipeline"
            }
          ]
        }
      ]
    },
    "access_methods": [
      {
        "method": "bulk-download",
        "url": "https://gnomad.broadinstitute.org/downloads",
        "formats": [
          "VCF"
        ],
        "auth": "none",
        "limits": [
          {
            "text": {
              "en": "Some annotations may have restrictions on usage; SpliceAI annotations, computed by Illumina, are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use.",
              "zh": "部分注释的使用可能受限；由 Illumina 计算的 SpliceAI 注释依据 CC BY NC 4.0 许可提供，供学术和非商业使用。"
            },
            "evidence": [
              {
                "location": "terms-page",
                "excerpt": "Some annotations may have restrictions on usage. For instance, SpliceAI annotations have been computed by Illumina and are provided with permission under a CC BY NC 4.0 license for academic and non-commercial use SpliceAI.",
                "url": "https://gnomad.broadinstitute.org/policies",
                "snapshot_id": "s01",
                "char_start": 1810,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "browser-agent"
              }
            ]
          },
          {
            "text": {
              "en": "The page states that these data are currently available only in the Hail Table format.",
              "zh": "页面称这些数据目前仅以 Hail Table 格式提供。"
            },
            "evidence": [
              {
                "location": "dataset-page",
                "excerpt": "these data are currently available only in the Hail Table format.",
                "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
                "snapshot_id": "s04",
                "char_start": 10384,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "pipeline"
              }
            ]
          },
          {
            "text": {
              "en": "All users of gnomAD data agree not to attempt to reidentify participants.",
              "zh": "gnomAD 数据的所有用户同意不试图重新识别参与者。"
            },
            "evidence": [
              {
                "location": "terms-page",
                "excerpt": "All users of gnomAD data agree to not attempt to reidentify participants.",
                "url": "https://gnomad.broadinstitute.org/policies",
                "snapshot_id": "s01",
                "char_start": 551,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "browser-agent"
              }
            ]
          }
        ],
        "terms": {
          "same_as_card_license": true,
          "own_terms": null
        },
        "reachable": null
      },
      {
        "method": "database-dump",
        "url": "https://gnomad.broadinstitute.org/downloads",
        "formats": [
          "BigQuery"
        ],
        "limits": [],
        "terms": {
          "same_as_card_license": true,
          "own_terms": null
        },
        "reachable": null
      },
      {
        "method": "web-ui-only",
        "url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/about/policies/terms.md",
        "formats": [],
        "limits": [],
        "terms": {
          "same_as_card_license": true,
          "own_terms": null
        },
        "statement": {
          "text": {
            "en": "Primary exome and genome data are released under CC0, with no restrictions or embargoes on publishing results.",
            "zh": "外显子组与基因组主数据以 CC0 发布，发表衍生结果不受限制或禁发期约束。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "The primary data from the gnomAD exomes and genomes are available free of restrictions under the",
              "url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/about/policies/terms.md",
              "snapshot_id": "s05",
              "char_start": 1113,
              "verified_on": "2026-11-14",
              "observed": "page",
              "source_work": {
                "title": "gnomAD Policies — Terms (browser source)",
                "authors_or_org": "gnomAD (Broad Institute)",
                "date": null,
                "date_as_written": null,
                "source_type": "official-page",
                "open_access": true,
                "doi_or_url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/about/policies/terms.md"
              }
            }
          ]
        },
        "reachable": null
      }
    ],
    "versioning": {
      "latest": {
        "label": "v4.0",
        "released_on": "2024-04-19",
        "statement": {
          "text": {
            "en": "v4.1 (19 April 2024) fixed the v4.0 allele-number issue and added joint allele number across all callable sites plus a flag for discordant exome/genome frequencies.",
            "zh": "v4.1（2024-04-19）修正了 v4.0 的等位基因数问题，新增全部可检出位点的联合等位基因数及外显子组/基因组频率不一致标记。"
          },
          "evidence": [
            {
              "location": "official-release-notes",
              "excerpt": "This update fixes the allele number issue in gnomAD v4.0 previously described here and critically adds two new functionalities: joint allele number across all called sites in the exomes and genomes and a new flag indicating when the frequencies in the exomes and genomes are highly discordant.",
              "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
              "snapshot_id": "s04",
              "char_start": 345,
              "verified_on": "2026-11-14",
              "observed": "page",
              "source_work": {
                "title": "gnomAD v4.1 (news)",
                "authors_or_org": "Katherine Chao, Michael Wilson, Julia Goodrich, gnomAD Production Team",
                "date": "2024-04-19",
                "date_as_written": "2024-04-19",
                "source_type": "official-release-notes",
                "open_access": true,
                "doi_or_url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/"
              }
            }
          ]
        }
      },
      "update_cycle": {
        "cycle": "irregular",
        "statement": {
          "text": {
            "en": "The v4 release follows a model of incremental releases, with v4.0 a minimum viable product release containing only the most critical components of the database.",
            "zh": "v4 发布采用增量发布模式，v4.0 为仅包含数据库最关键组件的最小可行产品（MVP）发布。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "In the v4 release, we have moved towards the model of incremental releases. This means that the v4.0 release is a minimum viable product (MVP) release, or a release that contains only the most critical components of the gnomAD database.",
              "url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/",
              "snapshot_id": "s03",
              "char_start": 1591,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "pipeline"
            }
          ]
        }
      },
      "breaking_changes": [
        {
          "version": "v4.0",
          "date": "2023-11-01",
          "kind": "content-removed",
          "statement": {
            "text": {
              "en": "The v4.0 release does not have all the features of the v2 or v3 releases; those features are to be released in subsequent minor releases.",
              "zh": "v4.0 发布不包含 v2 或 v3 发布的全部功能；这些功能将在后续次要版本中发布。"
            },
            "evidence": [
              {
                "location": "dataset-page",
                "excerpt": "This means that the v4.0 release will not have all of the features of the v2 or v3 releases, and these features will be released in subsequent minor releases.",
                "url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/",
                "snapshot_id": "s03",
                "char_start": 1828,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "pipeline"
              }
            ]
          }
        },
        {
          "version": "v4.0",
          "date": "2023-11-01",
          "kind": "content-removed",
          "statement": {
            "text": {
              "en": "The gnomAD v3 release had five subsets, while gnomAD v4 has a single subset (non-UKBB).",
              "zh": "gnomAD v3 发布有五个子集，而 gnomAD v4 只有一个子集（non-UKBB）。"
            },
            "evidence": [
              {
                "location": "dataset-page",
                "excerpt": "The gnomAD v3 release had five subsets, whereas gnomAD v4 has a single subset (non-UKBB; see Dataset selection ).",
                "url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/",
                "snapshot_id": "s03",
                "char_start": 3654,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "pipeline"
              }
            ]
          }
        },
        {
          "version": "v4.1",
          "date": "2024-04-19",
          "kind": "other",
          "statement": {
            "text": {
              "en": "The v4.1 update fixes the allele number issue in gnomAD v4.0 previously described on the page.",
              "zh": "v4.1 更新修复了页面此前描述的 gnomAD v4.0 等位基因数问题。"
            },
            "evidence": [
              {
                "location": "dataset-page",
                "excerpt": "This update fixes the allele number issue in gnomAD v4.0 previously described here",
                "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
                "snapshot_id": "s04",
                "char_start": 345,
                "verified_on": "2026-11-13",
                "observed": "page",
                "captured_by": "pipeline"
              }
            ]
          }
        },
        {
          "version": "gnomAD v4",
          "date": "2023-11-01",
          "kind": "content-removed",
          "statement": {
            "text": {
              "en": "v4 removed support for cohort subsets (such as non-disease subsets) from the exomes, partly because phenotype metadata are lacking for biobank samples.",
              "zh": "v4 外显子组取消了队列子集（如非疾病子集），部分原因是生物银行样本缺乏表型元数据。"
            },
            "evidence": [
              {
                "location": "official-release-notes",
                "excerpt": "We have removed support for subsets from the gnomAD v4 exomes for two major reasons: given the large size of gnomAD v4 and the small size of any single cohort, we do not feel that the prevalence of any disease is high enough to warrant subsets.",
                "url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/",
                "snapshot_id": "s03",
                "char_start": 3913,
                "verified_on": "2026-11-14",
                "observed": "page",
                "source_work": {
                  "title": "gnomAD v4.0 (news)",
                  "authors_or_org": "Katherine Chao, gnomAD Production Team",
                  "date": "2023-11-01",
                  "date_as_written": "2023-11-01",
                  "source_type": "official-release-notes",
                  "open_access": true,
                  "doi_or_url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/"
                }
              }
            ]
          }
        },
        {
          "version": "in v3.1",
          "date": null,
          "kind": "other",
          "statement": {
            "text": {
              "en": "Variants from the v3.1 genomes were brought into v4 and relabelled as v4 genomes.",
              "zh": "v3.1 基因组的变异被直接并入 v4，改称 v4 基因组。"
            },
            "evidence": [
              {
                "location": "dataset-page",
                "excerpt": "Variants from the genomes in v3.1 were brought directly into v4 and are now labeled v4 genomes.",
                "url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/variant-qc.md",
                "snapshot_id": "s06",
                "char_start": 445,
                "verified_on": "2026-11-14",
                "observed": "page",
                "source_work": {
                  "title": "gnomAD help — Variant QC (browser source)",
                  "authors_or_org": "gnomAD (Broad Institute)",
                  "date": null,
                  "date_as_written": null,
                  "source_type": "official-page",
                  "open_access": true,
                  "doi_or_url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/variant-qc.md"
                }
              }
            ]
          }
        }
      ],
      "history_url": null,
      "notes": [
        {
          "text": {
            "en": "gnomAD v4.0 (1 November 2023) includes 807,162 individuals: exomes from 730,947 (416,555 from UK Biobank) and genomes from 76,215.",
            "zh": "gnomAD v4.0（2023-11-01）包含 807,162 人：外显子组 730,947 人（其中英国生物银行 416,555 人），基因组 76,215 人。"
          },
          "evidence": [
            {
              "location": "official-release-notes",
              "excerpt": "This release is nearly 5x larger than the combined v2/v3 releases and consists of two callsets: exome sequencing data from 730,947 individuals, including 416,555 individuals from the UK Biobank , and genome sequencing data from 76,215 individuals.",
              "url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/",
              "snapshot_id": "s03",
              "char_start": 358,
              "verified_on": "2026-11-14",
              "observed": "page",
              "source_work": {
                "title": "gnomAD v4.0 (news)",
                "authors_or_org": "Katherine Chao, gnomAD Production Team",
                "date": "2023-11-01",
                "date_as_written": "2023-11-01",
                "source_type": "official-release-notes",
                "open_access": true,
                "doi_or_url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/"
              }
            }
          ]
        }
      ]
    },
    "known_defects": [
      {
        "kind": "data-quality",
        "statement": {
          "text": {
            "en": "The page states that variant calling and filtering from short-read sequencing data is an imperfect and probabilistic process, so many errors no doubt remain.",
            "zh": "页面称短读长测序数据的变异调用和过滤是不完美且概率性的过程，因此无疑仍存在许多错误。"
          },
          "evidence": [
            {
              "location": "terms-page",
              "excerpt": "This data set has been subjected to extensive quality control, but variant calling and filtering from short-read sequencing data is an imperfect and probabilistic process, so many errors no doubt remain.",
              "url": "https://gnomad.broadinstitute.org/policies",
              "snapshot_id": "s01",
              "char_start": 626,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "browser-agent"
            }
          ]
        },
        "source_kind": "official-note",
        "scope": "variant calls",
        "attribution": {
          "who": "gnomad.broadinstitute.org",
          "when": "2026-11-13",
          "source_type": "official-page",
          "title": null
        },
        "correction_entrance": "Report an error through the publisher: https://gnomad.broadinstitute.org/"
      },
      {
        "kind": "data-quality",
        "statement": {
          "text": {
            "en": "The 76,156 genomes from v3.1.2 included in v4 did not have their quality control updated, although some frequencies within the HGDP/1KG subset were updated.",
            "zh": "纳入 v4 的 76,156 个来自 v3.1.2 的基因组未更新质量控制，但已更新 HGDP/1KG 子集的部分频率。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "The 76,156 genomes from gnomAD v3.1.2 have been included in gnomAD v4. We have not updated the quality control (QC) of these samples, but we have updated some of the frequencies within the HGDP and 1000 Genomes (HGDP/1KG) subset .",
              "url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/",
              "snapshot_id": "s03",
              "char_start": 2319,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "pipeline"
            }
          ]
        },
        "source_kind": "official-note",
        "scope": "76,156 genomes from gnomAD v3.1.2 included in v4",
        "attribution": {
          "who": "gnomad.broadinstitute.org",
          "when": "2026-11-13",
          "source_type": "official-page",
          "title": null
        },
        "correction_entrance": "Report an error through the publisher: https://gnomad.broadinstitute.org/"
      },
      {
        "kind": "bias",
        "statement": {
          "text": {
            "en": "The page states that combining the datasets introduces challenges related to datasets that differ in sequencing and processing methods and exhibit variations in sample composition due to ascertainment biases.",
            "zh": "页面称合并数据集带来挑战，涉及测序和处理方法不同以及样本构成因抽样偏倚而变化的数据集。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "However, it also introduces challenges related to integrating datasets that not only differ in their sequencing and processing methods, but also exhibit variations in sample composition due to ascertainment biases.",
              "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
              "snapshot_id": "s04",
              "char_start": 5268,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "pipeline"
            }
          ]
        },
        "source_kind": "official-note",
        "scope": "combined exome and genome frequencies",
        "attribution": {
          "who": "gnomad.broadinstitute.org",
          "when": "2026-11-13",
          "source_type": "official-page",
          "title": null
        },
        "correction_entrance": "Report an error through the publisher: https://gnomad.broadinstitute.org/"
      },
      {
        "kind": "data-quality",
        "statement": {
          "text": {
            "en": "The page states that indels generally tend to have less stable frequency estimates, likely because most indels in gnomAD tend to occur in low-complexity regions or in regions overlapping a segmental duplication.",
            "zh": "页面称插入缺失的频率估计通常较不稳定，可能因为 gnomAD 中的大多数插入缺失位于低复杂度区域或与片段重复重叠的区域。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "In addition, indels generally tend to have less stable frequency estimates 1 , likely because most of the indels in gnomAD tend to occur in low-complexity regions or in regions overlapping a segmental duplication (see flags ).",
              "url": "https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/",
              "snapshot_id": "s04",
              "char_start": 9646,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "pipeline"
            }
          ]
        },
        "source_kind": "official-note",
        "scope": "indels",
        "attribution": {
          "who": "gnomad.broadinstitute.org",
          "when": "2026-11-13",
          "source_type": "official-page",
          "title": null
        },
        "correction_entrance": "Report an error through the publisher: https://gnomad.broadinstitute.org/"
      },
      {
        "kind": "identifier",
        "statement": {
          "text": {
            "en": "Gudmundsson et al.: genes with close paralogs, pseudogenes or segmental duplications may have short-read mapping problems that inflate observed variant counts.",
            "zh": "Gudmundsson 等：有近缘旁系同源基因、假基因或片段重复的基因可能存在短读长比对问题，会抬高观察到的变异数。"
          },
          "evidence": [
            {
              "location": "peer-reviewed-paper",
              "excerpt": "However, genes with highly similar paralogs, pseudogenes, or segmental duplications may have mapping challenges with short read data that can inflate observed variant counts.",
              "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC9160216/",
              "snapshot_id": "s07",
              "char_start": 24371,
              "verified_on": "2026-11-14",
              "observed": "page",
              "source_work": {
                "title": "Variant interpretation using population databases: Lessons from gnomAD",
                "authors_or_org": "Gudmundsson S, Singer-Berk M, Watts NA, et al. (Human Mutation)",
                "date": "2021-12-16",
                "date_as_written": "2021-12-16",
                "source_type": "peer-reviewed-paper",
                "open_access": true,
                "doi_or_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC9160216/"
              }
            }
          ]
        },
        "source_kind": "peer-reviewed-paper",
        "scope": null,
        "attribution": {
          "who": "Gudmundsson S, Singer-Berk M, Watts NA, et al. (Human Mutation)",
          "when": "2021-12-16",
          "source_type": "peer-reviewed-paper",
          "title": "Variant interpretation using population databases: Lessons from gnomAD"
        },
        "correction_entrance": "Report an error through the publisher or the authors: https://pmc.ncbi.nlm.nih.gov/articles/PMC9160216/"
      },
      {
        "kind": "coverage",
        "statement": {
          "text": {
            "en": "An allele count of 0 or missing can mean no data (e.g. outside exome capture), no alternate calls, or no high-quality calls.",
            "zh": "等位基因计数为 0 或缺失可能表示无数据（如位于外显子捕获区外）、无替代等位基因检出或无高质量检出。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "There are three reasons why a variant will have an allele count of 0 or an undefined (missing) allele count (indicated by `-`):",
              "url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/allele-count-zero.md",
              "snapshot_id": "s08",
              "char_start": 56,
              "verified_on": "2026-11-14",
              "observed": "page",
              "source_work": {
                "title": "gnomAD help — Allele count zero (browser source)",
                "authors_or_org": "gnomAD (Broad Institute)",
                "date": null,
                "date_as_written": null,
                "source_type": "official-page",
                "open_access": true,
                "doi_or_url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/allele-count-zero.md"
              }
            }
          ]
        },
        "source_kind": "official-note",
        "scope": null,
        "attribution": {
          "who": "gnomAD (Broad Institute)",
          "when": "date not stated (page read 2026-11-14)",
          "source_type": "official-page",
          "title": "gnomAD help — Allele count zero (browser source)"
        },
        "correction_entrance": "Report an error through the publisher or the authors: https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/allele-count-zero.md"
      }
    ],
    "fit": {
      "suited_for": [
        {
          "text": {
            "en": "The page states that users can freely download and search the data and encourages the use and publication of results generated from these data.",
            "zh": "页面称用户可以自由下载和搜索数据，并鼓励使用和发表由这些数据产生的结果。"
          },
          "evidence": [
            {
              "location": "terms-page",
              "excerpt": "You can freely download and search the data, and we encourage the use and publication of results generated from these data.",
              "url": "https://gnomad.broadinstitute.org/policies",
              "snapshot_id": "s01",
              "char_start": 129,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "browser-agent"
            }
          ]
        },
        {
          "text": {
            "en": "The page states that in use cases involving querying a relatively small number of records with low latency, using the API to request records as needed may be more suitable than working with downloaded gnomAD data.",
            "zh": "页面称，在需要低延迟查询相对少量记录的场景中，按需使用 API 请求记录可能比使用下载的 gnomAD 数据更合适。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "In use cases involving querying a relatively small number of records with low latency, using the API to request records as needed may be more suitable than working with downloaded gnomAD data.",
              "url": "https://gnomad.broadinstitute.org/downloads",
              "snapshot_id": "s02",
              "char_start": 305,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "browser-agent"
            }
          ]
        },
        {
          "text": {
            "en": "The filtering allele frequency (FAF) is intended for filtering variants against a disease-specific frequency threshold (e.g. ACMG/AMP BA1); it is not computed for bottlenecked groups (ami, asj, fin, rmi).",
            "zh": "过滤等位基因频率（FAF）用于按疾病特定频率阈值过滤变异（如 ACMG/AMP BA1）；瓶颈人群（ami、asj、fin、rmi）不计算该指标。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "This annotation can be used for filtering variants by allele frequency against a disease-specific threshold that can be set for each disease (e.g. BA1 in the 2015 ACMG/AMP guidelines).",
              "url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/faf.md",
              "snapshot_id": "s10",
              "char_start": 53,
              "verified_on": "2026-11-14",
              "observed": "page",
              "source_work": {
                "title": "gnomAD help — Filtering allele frequency (browser source)",
                "authors_or_org": "gnomAD (Broad Institute)",
                "date": null,
                "date_as_written": null,
                "source_type": "official-page",
                "open_access": true,
                "doi_or_url": "https://raw.githubusercontent.com/broadinstitute/gnomad-browser/main/browser/help/topics/faf.md"
              }
            }
          ]
        }
      ],
      "not_suited_for": [
        {
          "text": {
            "en": "The page states that, given the large size of gnomAD v4 and the small size of any single cohort, it does not consider the prevalence of any disease high enough to warrant subsets.",
            "zh": "页面称，鉴于 gnomAD v4 规模很大而任何单个队列规模很小，其认为任何疾病的患病率都不足以支持划分子集。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "given the large size of gnomAD v4 and the small size of any single cohort, we do not feel that the prevalence of any disease is high enough to warrant subsets.",
              "url": "https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/",
              "snapshot_id": "s03",
              "char_start": 3998,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "pipeline"
            }
          ]
        },
        {
          "text": {
            "en": "The page states that for querying a relatively small number of records with low latency, working with downloaded gnomAD data may be less suitable than using the API.",
            "zh": "页面称，对于低延迟查询相对少量记录，使用下载的 gnomAD 数据可能不如使用 API 合适。"
          },
          "evidence": [
            {
              "location": "dataset-page",
              "excerpt": "In use cases involving querying a relatively small number of records with low latency, using the API to request records as needed may be more suitable than working with downloaded gnomAD data.",
              "url": "https://gnomad.broadinstitute.org/downloads",
              "snapshot_id": "s02",
              "char_start": 305,
              "verified_on": "2026-11-13",
              "observed": "page",
              "captured_by": "browser-agent"
            }
          ]
        }
      ]
    },
    "commercial_access": {
      "route": "unknown",
      "url": null,
      "statement": null
    },
    "completeness": {
      "core_complete": true,
      "literature_defects": 1,
      "reachable_access": 0,
      "meets_practical_bar": false,
      "gaps": [
        {
          "field": "commercial_access",
          "note": "未找到有出处的说明 / no sourced statement found"
        }
      ]
    }
  },
  "_links": {
    "text": "Continue in this database. This record is one of 109 processed and verified records (datasets, data resources and open models). To find others, call `https://mcp.mdexa.com/v1/datasets?q=<words>` or connect the MCP server at `https://mcp.mdexa.com/mcp`; no key is needed for 20 calls per minute. Rows are under 1 KB; an empty result means \"not listed\". For a list of items, one batch check (free account) returns a report. Guide: /agents.md. Similar records: AlphaFold Protein Structure Database (https://mdexa.com/datasets/alphafold-db/); GEO (https://mdexa.com/datasets/geo/); ClinPGx/PharmGKB (https://mdexa.com/datasets/pharmgkb/).",
    "records": 109,
    "search": {
      "template": "https://mcp.mdexa.com/v1/datasets?q={words}",
      "example": "https://mcp.mdexa.com/v1/datasets?q=binding%20affinity"
    },
    "mcp": "https://mcp.mdexa.com/mcp",
    "anonymous_calls_per_minute": 20,
    "guide": "https://mdexa.com/agents.md",
    "faq": "https://mdexa.com/developers/faq/",
    "similar": [
      {
        "name": "AlphaFold Protein Structure Database",
        "url": "https://mdexa.com/datasets/alphafold-db/",
        "json": "https://mdexa.com/datasets/alphafold-db.json"
      },
      {
        "name": "GEO",
        "url": "https://mdexa.com/datasets/geo/",
        "json": "https://mdexa.com/datasets/geo.json"
      },
      {
        "name": "ClinPGx/PharmGKB",
        "url": "https://mdexa.com/datasets/pharmgkb/",
        "json": "https://mdexa.com/datasets/pharmgkb.json"
      }
    ]
  }
}