Does it support both GRCh37 and GRCh38 genome builds?

Yes, the skill provides specific guidance and FTP paths for downloading and annotating VCF files for both the GRCh37 and GRCh38 human genome assemblies.

How does the skill handle conflicting variant interpretations?

The skill provides a resolution strategy that prioritizes higher review status (star ratings), examines submission dates for the latest evidence, and suggests using expert panel classifications when available.

What is ClinVar and how does this skill use it?

ClinVar is an NCBI archive of genetic variant-phenotype relationships. This skill enables Claude to query its API, interpret clinical significance (pathogenic vs. benign), and process data files programmatically.

Does this skill require an API key for NCBI?

While it works without one, it recommends using an NCBI API key to increase rate limits from 3 to 10 requests per second for more efficient data retrieval.

Can I use this for direct clinical diagnosis?

No, this tool is intended for research and professional assistance only; all clinical interpretations and variant classifications should be verified by a certified genetics professional.

ClinVar Genomic Analysis

Name: ClinVar Genomic Analysis
Author: K-Dense-AI

byK-Dense-AI

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2,188

Ciencia de Datos y ML

Queries the NCBI ClinVar database to interpret genetic variant pathogenicity and annotate genomic data for research and medicine.

Acerca de

This skill integrates the NCBI ClinVar database into the Claude Code environment, allowing researchers and bioinformaticians to programmatically search for human genetic variants, interpret clinical significance, and process bulk genomic data. It provides standardized guidance for navigating the E-utilities API, interpreting ACMG/AMP pathogenicity classifications, and automating VCF annotation. By bridging the gap between raw genomic files and clinical evidence, it streamlines the analysis of variant-phenotype relationships and supports evidence-based genomic medicine workflows.

Características Principales

Programmatic ClinVar querying via NCBI E-utilities API
VCF annotation and filtering for clinical significance using tools like bcftools
High-confidence variant filtering based on star-rating review status
Automated interpretation of ACMG/AMP pathogenicity classifications
2,188 GitHub stars
Bulk genomic data processing and FTP site navigation

Casos de Uso

Identifying pathogenic variants for specific genes in clinical research pipelines
Building local genomic databases by parsing large-scale ClinVar XML releases
Resolving conflicting variant interpretations using evidence-based heuristics

Acerca de

Características Principales

Programmatic ClinVar querying via NCBI E-utilities API
VCF annotation and filtering for clinical significance using tools like bcftools
High-confidence variant filtering based on star-rating review status
Automated interpretation of ACMG/AMP pathogenicity classifications
2,188 GitHub stars
Bulk genomic data processing and FTP site navigation

Casos de Uso

Identifying pathogenic variants for specific genes in clinical research pipelines
Building local genomic databases by parsing large-scale ClinVar XML releases
Resolving conflicting variant interpretations using evidence-based heuristics