Gwas 工具

Configuration File: gwas_tools.json Tool Type: Local Tools Count: 13

此页面包含 gwas_tools.json 配置文件中定义的所有工具。

可用工具

GWAS_search_associations_by_gene (Type: GWASGeneSearch)

Search GWAS Catalog associations by gene name (returns strongest risk allele and p-value fields).

GWAS_search_associations_by_gene tool specification

工具信息：

• Name: GWAS_search_associations_by_gene

• Type: GWASGeneSearch

• Description: Search GWAS Catalog associations by gene name (returns strongest risk allele and p-value fields).

参数：

• gene_name (string) (required) Gene symbol (e.g., BRCA1).

• size (integer) (optional) Max associations to return.

示例用法：

query = {
    "name": "GWAS_search_associations_by_gene",
    "arguments": {
        "gene_name": "example_value"
    }
}
result = tu.run(query)

**gwas_get_association_by_id**（类型：GWASAssociationByID）

通过其唯一标识符获取特定的GWAS关联。

gwas_get_association_by_id 工具规格说明

工具信息：

• 名称：gwas_get_association_by_id

• 类型：GWASAssociationByID

• 描述：通过其唯一标识符获取特定的GWAS关联。

参数：

• association_id (string) (required) GWAS association identifier

示例用法：

query = {
    "name": "gwas_get_association_by_id",
    "arguments": {
        "association_id": "example_value"
    }
}
result = tu.run(query)

**gwas_get_associations_for_snp**（类型：GWASAssociationsForSNP）

获取特定SNP的所有关联，并可选择排序。

gwas_get_associations_for_snp 工具规范

工具信息：

• 名称: gwas_get_associations_for_snp

• 类型: GWASAssociationsForSNP

• 描述：获取特定SNP的所有关联，并支持可选排序。

参数：

• rs_id (string) (required) dbSNP rs identifier

• ``sort``（字符串）（可选）排序字段（例如：’p_value’，’or_value’）

• ``direction``（字符串）（可选）排序方向（’asc’ 或 ‘desc’）

• ``size``（整数）（可选）每页返回的结果数量

• ``page``（整数）（可选）用于分页的页码

示例用法：

query = {
    "name": "gwas_get_associations_for_snp",
    "arguments": {
        "rs_id": "example_value"
    }
}
result = tu.run(query)

**gwas_get_associations_for_study**（类型：GWASAssociationsForStudy）

获取特定研究的所有关联，并按 p 值排序。

gwas_get_associations_for_study 工具规范

工具信息：

• 名称: gwas_get_associations_for_study

• 类型：GWASAssociationsForStudy

• 描述：获取特定研究的所有关联，按p值排序。

参数：

• accession_id (string) (required) Study accession identifier

• ``size``（整数）（可选）每页返回的结果数量

• ``page``（整数）（可选）用于分页的页码

示例用法：

query = {
    "name": "gwas_get_associations_for_study",
    "arguments": {
        "accession_id": "example_value"
    }
}
result = tu.run(query)

**gwas_get_associations_for_trait**（类型：GWASAssociationsForTrait）

获取特定性状的所有关联，按p值排序（最显著优先）。

gwas_get_associations_for_trait 工具规格说明

工具信息：

• 名称：gwas_get_associations_for_trait

• 类型：GWASAssociationsForTrait

• 描述：获取特定性状的所有关联，按p值排序（最显著的优先）。

参数：

• disease_trait (string) (optional) Disease or trait name for text-based search (e.g., ‘diabetes’, ‘hypertension’)

• efo_uri (string) (optional) Full EFO ontology URI (e.g., ‘http://www.ebi.ac.uk/efo/EFO_0001645’)

• efo_id (string) (optional) EFO/OBA term ID (e.g., ‘EFO_0001645’, ‘OBA_2050062’). Recommended for reliable trait filtering.

• efo_trait (string) (optional) Exact EFO trait label. Use when you know the canonical trait string.

• ``size``（整数）（可选）每页返回的结果数量

• ``page``（整数）（可选）用于分页的页码

示例用法：

query = {
    "name": "gwas_get_associations_for_trait",
    "arguments": {
    }
}
result = tu.run(query)

**gwas_get_snp_by_id**（类型：GWASSNPByID）

通过其 rs ID 获取特定的 GWAS SNP。

gwas_get_snp_by_id 工具规格说明

工具信息：

• 名称：gwas_get_snp_by_id

• 类型：GWASSNPByID

• 描述：通过其 rs ID 获取特定的 GWAS SNP。

参数：

• rs_id (string) (required) dbSNP rs identifier

示例用法：

query = {
    "name": "gwas_get_snp_by_id",
    "arguments": {
        "rs_id": "example_value"
    }
}
result = tu.run(query)

**gwas_get_snps_for_gene**（类型：GWASSNPsForGene）

Get all GWAS Catalog SNPs mapped to a specific gene by gene name (e.g., ‘BRCA1’, ‘TP53’). Returns…

gwas_get_snps_for_gene 工具规范

工具信息：

• 名称：gwas_get_snps_for_gene

• 类型：GWASSNPsForGene

• Description: Get all GWAS Catalog SNPs mapped to a specific gene by gene name (e.g., ‘BRCA1’, ‘TP53’). Returns variant details including rs IDs, chromosomal positions, and functional annotations. Use this when you want to find all catalogued variants within or near a specific gene.

参数：

• ``size``（整数）（可选）每页返回的结果数量

• ``page``（整数）（可选）用于分页的页码

• gene_symbol (string) (optional) Gene name or symbol (e.g., ‘BRCA1’, ‘TP53’, ‘GBA’)

• gene (string) (optional) Alias for gene_symbol

• mapped_gene (string) (optional) Alias for gene_symbol

示例用法：

query = {
    "name": "gwas_get_snps_for_gene",
    "arguments": {
    }
}
result = tu.run(query)

**gwas_get_studies_for_trait**（类型：GWASStudiesForTrait）

获取特定性状的研究，可选择性应用队列、基因-环境交互（GxE）及摘要等筛选条件…

gwas_get_studies_for_trait 工具规格说明

工具信息：

• 名称：gwas_get_studies_for_trait

• 类型：GWASStudiesForTrait

• 描述：获取特定性状的研究数据，支持按队列、基因与环境交互（GxE）及汇总统计信息进行可选筛选。

参数：

• disease_trait (string) (optional) Disease or trait name for text-based search (e.g., ‘diabetes’, ‘alzheimer disease’)

• efo_uri (string) (optional) Full EFO ontology URI (e.g., ‘http://www.ebi.ac.uk/efo/EFO_0001645’)

• efo_id (string) (optional) EFO/OBA term ID (e.g., ‘EFO_0001645’, ‘OBA_2050062’). Recommended for reliable trait filtering.

• efo_trait (string) (optional) Exact EFO trait label. Use when you know the canonical trait string.

• ``cohort``（字符串）（可选）队列名称（例如，英国生物样本库的“UKB”）

• ``gxe``（布尔型）（可选）用于基因与环境交互作用研究的筛选条件

• ``full_pvalue_set``（布尔值）（可选）用于筛选具有完整汇总统计数据的研究

• ``size``（整数）（可选）每页返回的结果数量

• ``page``（整数）（可选）用于分页的页码

示例用法：

query = {
    "name": "gwas_get_studies_for_trait",
    "arguments": {
    }
}
result = tu.run(query)

**gwas_get_study_by_id**（类型：GWASStudyByID）

通过其唯一标识符获取特定的GWAS研究。

gwas_get_study_by_id 工具规范

工具信息：

• 名称：gwas_get_study_by_id

• 类型：GWASStudyByID

• 描述：通过唯一标识符获取特定的GWAS研究。

参数：

• study_id (string) (required) GWAS study identifier

示例用法：

query = {
    "name": "gwas_get_study_by_id",
    "arguments": {
        "study_id": "example_value"
    }
}
result = tu.run(query)

**gwas_get_variants_for_trait**（类型：GWASVariantsForTrait）

Search the GWAS Catalog for all genetic variants (SNPs) linked to a specific disease or trait. Ac…

gwas_get_variants_for_trait 工具规格说明

工具信息：

• 名称：gwas_get_variants_for_trait

• 类型：GWASVariantsForTrait

• Description: Search the GWAS Catalog for all genetic variants (SNPs) linked to a specific disease or trait. Accepts free-text disease/trait names (e.g., ‘diabetes’, ‘breast cancer’), EFO ontology IDs, or EFO trait labels. Returns variant details including rsIDs, p-values, mapped genes, and genomic locations. This is the best tool for finding all GWAS variants for a disease when you do NOT already have a specific variant ID.

参数：

• disease_trait (string) (optional) Disease or trait name for text-based search (e.g., ‘diabetes’, ‘breast cancer’)

• trait (string) (optional) Alias for disease_trait. Disease or trait name (e.g., ‘type 2 diabetes’, ‘breast cancer’)

• efo_uri (string) (optional) Full EFO ontology URI (e.g., ‘http://www.ebi.ac.uk/efo/EFO_0001645’)

• efo_id (string) (optional) EFO/OBA term ID (e.g., ‘EFO_0001645’, ‘OBA_2050062’). Recommended for reliable trait filtering.

• efo_trait (string) (optional) Exact EFO trait label. Use when you know the canonical trait string.

• ``size``（整数）（可选）每页返回的结果数量

• limit (integer) (optional) Alias for size. Number of results to return per page

• ``page``（整数）（可选）用于分页的页码

示例用法：

query = {
    "name": "gwas_get_variants_for_trait",
    "arguments": {
    }
}
result = tu.run(query)

**gwas_search_associations**（类型：GWASAssociationSearch）

Search the GWAS Catalog for genome-wide association study results by keyword. Accepts free-text d…

gwas_search_associations 工具规范

工具信息：

• 名称：gwas_search_associations

• 类型：GWASAssociationSearch

• Description: Search the GWAS Catalog for genome-wide association study results by keyword. Accepts free-text disease/trait names (e.g., ‘melanoma’, ‘diabetes’, ‘breast cancer’), SNP rs IDs, EFO ontology IDs, or study accession IDs. This is the primary tool for discovering GWAS associations when you do NOT already have a specific association ID. Returns SNPs, p-values, odds ratios, mapped genes, and study metadata with pagination support.

参数：

• disease_trait (string) (optional) Disease or trait name for text-based search (e.g., ‘diabetes’, ‘coronary artery disease’, ‘breast cancer’). NOTE: GWAS associations are indexed by trait/disease, not by gene or drug name — passing a gene symbol or drug name here will fail. Use efo_id for precise filtering.

• query (string) (optional) Alias for disease_trait. Disease or trait name (e.g., ‘type 2 diabetes’). NOTE: gene symbols and drug names are not valid GWAS trait queries.

• efo_uri (string) (optional) Full EFO ontology URI (e.g., ‘http://www.ebi.ac.uk/efo/EFO_0001645’)

• efo_id (string) (optional) EFO/OBA term ID (e.g., ‘EFO_0001645’, ‘OBA_2050062’). Recommended for reliable trait filtering.

• efo_trait (string) (optional) Exact EFO trait label (e.g., ‘serum alanine aminotransferase amount’). Use when you know the canonical trait string.

• ``rs_id``（字符串）（可选）dbSNP rs 标识符

• ``accession_id``（字符串）（可选）研究登录标识符

• p_value (number) (optional) Maximum p-value threshold for filtering (e.g., 5e-8 for genome-wide significance). Applied client-side after retrieval.

• p_value_threshold (number) (optional) Alias for p_value: maximum p-value threshold.

• ``sort``（字符串）（可选）排序字段（例如：’p_value’，’or_value’）

• ``direction``（字符串）（可选）排序方向（’asc’ 或 ‘desc’）

• ``size``（整数）（可选） 返回结果的数量

• ``page``（整数）（可选）用于分页的页码

示例用法：

query = {
    "name": "gwas_search_associations",
    "arguments": {
    }
}
result = tu.run(query)

**gwas_search_snps**（类型：GWASSNPSearch）

Search the GWAS Catalog for single nucleotide polymorphisms (SNPs) by rs ID (e.g., ‘rs7903146’) o…

gwas_search_snps 工具规格说明

工具信息：

• 名称：gwas_search_snps

• 类型：GWASSNPSearch

• Description: Search the GWAS Catalog for single nucleotide polymorphisms (SNPs) by rs ID (e.g., ‘rs7903146’) or mapped gene name (e.g., ‘TCF7L2’). Returns SNP details including chromosomal location, mapped genes, and functional class. Use this to look up specific variants or find all GWAS-catalogued SNPs for a gene.

参数：

• ``rs_id``（字符串）（可选）dbSNP rs 标识符

• ``mapped_gene``（字符串）（可选）基因名称或符号

• ``size``（整数）（可选） 返回结果的数量

• ``page``（整数）（可选）用于分页的页码

示例用法：

query = {
    "name": "gwas_search_snps",
    "arguments": {
    }
}
result = tu.run(query)

**gwas_search_studies**（类型：GWASStudySearch）

Search for GWAS studies by various criteria including disease trait, cohort, GxE interactions, an…

gwas_search_studies 工具规格说明

工具信息：

• 名称：gwas_search_studies

• 类型：GWASStudySearch

• Description: Search for GWAS studies by various criteria including disease trait, cohort, GxE interactions, and summary statistics availability.

参数：

• disease_trait (string) (optional) Disease or trait name for text-based search (e.g., ‘diabetes’, ‘breast cancer’)

• efo_uri (string) (optional) Full EFO ontology URI (e.g., ‘http://www.ebi.ac.uk/efo/EFO_0001645’)

• efo_id (string) (optional) EFO/OBA term ID (e.g., ‘EFO_0001645’, ‘OBA_2050062’). Recommended for reliable trait filtering.

• efo_trait (string) (optional) Exact EFO trait label. Use when you know the canonical trait string.

• ``cohort``（字符串）（可选）队列名称（例如，英国生物样本库的“UKB”）

• ``gxe``（布尔型）（可选）用于基因与环境交互作用研究的筛选条件

• ``full_pvalue_set``（布尔值）（可选）用于筛选具有完整汇总统计数据的研究

• ``size``（整数）（可选） 返回结果的数量

• ``page``（整数）（可选）用于分页的页码

示例用法：

query = {
    "name": "gwas_search_studies",
    "arguments": {
    }
}
result = tu.run(query)

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