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macarthur-lab / ClinvarThis repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file.
ding-lab / CharGerCharacterization of Germline variants
ncbi / ClinvarClinVar aggregates information about genomic variation and its relationship to human health. Contact us at 'clinvar@ncbi.nlm.nih.gov' with any questions or comments.
EBIvariation / CMATClinVar Mapping and Annotation Toolkit
glasgowm148 / PhenotypeAn Open Source Web Application for Genetic Data (SNPs) Data Crawling
eilbecklab / Clinvar MinerWebsite to analyze conflicting assertions in ClinVar
arvkevi / Clinvar KaggleScripts used to generate the ClinVar conflicting classifications dataset on Kaggle
ssaunderss / Clinvar CheckerSimple CLI tool to cross-check your raw 23andMe genetic data against the ClinVar database
ayoisio / Variant AgentsVariant Agents: Multi-Agent Genomic Analysis
SeqOne / ClinvcfGenerate an enhanced VCF files from ClinVar XML Full releases
SeqOne / Variant AlertVariant Alert!, a framework to monitor every significant alteration in variant classification and gene-disease association between two versions of ClinVar database.
dlal-group / Simple ClinVarShiny ClinVar web server source code
varfish-org / Clinvar ThisClinVar Submission API Made Easy
pstawinski / PygenebePyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
ryuzheng / Clinvar Db For Annovarautomatic update Clinvar db for ANNOVAR
OpenHumans / GenevieveGenevieve client: using GenNotes, report ClinVar for individual genomes & add consensus notes
CalvinSturm / DNA AIDNA-AI is a local, privacy-focused bioinformatics tool that analyzes raw DNA data (from 23andMe, AncestryDNA, etc.) against the NCBI ClinVar database. It combines deterministic data matching with a local Large Language Model (Llama 3) to explain health risks in plain English.
dellelce / ClinvarpyCompare (23andMe, AncestryDNA, MyHeritage, LivingDNA) DNA kit with Clinvar database
rbutleriii / ClinotatorClinical interpretation of ambiguous ClinVar annotations
NCBI-Hackathons / UPWARDUPWARD: Uniting People Working Against Rare Diseases
