Can I use this skill for clinical diagnosis?

No, this skill is designed for research and bioinformatic analysis. All clinical interpretations should be verified by a qualified genetics professional.

Does it support both GRCh37 and GRCh38 builds?

Yes, the skill includes instructions and code patterns for accessing and annotating data across both major human genome assemblies.

What is the ClinVar Database skill for Claude?

It is a specialized capability that provides Claude with domain-specific knowledge to query NCBI ClinVar genomic data and interpret variant clinical significance correctly.

How does the skill handle conflicting variant interpretations?

It provides a resolution strategy based on star ratings (review status), submission dates, and expert panel classifications to help determine the most reliable pathogenicity status.

How does this skill access ClinVar data?

The skill provides patterns for using NCBI’s E-utilities API for real-time queries and FTP access for bulk data downloads in XML, VCF, and tab-delimited formats.

ClinVar Database Integration

Name: ClinVar Database Integration
Author: K-Dense-AI

byK-Dense-AI

•

3,719

数据科学与机器学习

Access and analyze genomic variant clinical significance data from NCBI's ClinVar archive.

关于

The ClinVar Database skill provides specialized capabilities for Claude to query and interpret human genetic variant data. It enables seamless interaction with NCBI’s ClinVar archive via E-utilities APIs and FTP bulk downloads, allowing users to search for pathogenicity classifications (pathogenic, benign, VUS), annotate VCF files, and resolve conflicting interpretations. This skill is essential for researchers and bioinformaticians working in genomic medicine who need standardized variant evidence and clinical significance documentation directly within their coding workflow.

主要功能

VCF and XML data processing for genomic pipelines
Review status verification and star-rating analysis
Bulk data retrieval and automated FTP download management
Pathogenicity classification interpretation using ACMG/AMP guidelines
Programmatic API access via NCBI E-utilities
3,719 GitHub stars

使用场景

Annotating clinical variant call sets (VCFs) with pathogenicity data
Building automated pipelines for monthly ClinVar database updates
Researching gene-specific variant classifications for hereditary diseases

关于

主要功能

VCF and XML data processing for genomic pipelines
Review status verification and star-rating analysis
Bulk data retrieval and automated FTP download management
Pathogenicity classification interpretation using ACMG/AMP guidelines
Programmatic API access via NCBI E-utilities
3,719 GitHub stars

使用场景

Annotating clinical variant call sets (VCFs) with pathogenicity data
Building automated pipelines for monthly ClinVar database updates
Researching gene-specific variant classifications for hereditary diseases