alterlab-gwas
De la autor
Query the NHGRI-EBI GWAS Catalog REST API v2 for curated SNP-trait associations, retrieving variants by rs ID, disease/trait (EFO/MONDO), gene, or study (GCST) with p-values, effect sizes, and ancestry, and locate full harmonised summary statistics on the FTP site. Use when investigating genome-wide association study hits, mapping a SNP or rsID to traits, selecting GWAS for polygenic risk scores or fine-mapping, or doing genetic epidemiology lookups. Part of the AlterLab Academic Skills suite.
Instalare
npx skills add AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-gwas -a claude-code
Se instalează în .claude/skills/alterlab-gwas/ · Fiecare comandă descarcă skill-ul direct de pe GitHub cu utilitarul open source skills.
Identic octet cu octet cu commit-ul scanat, cu licența depozitului și un fișier SOURCE.txt.
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De ce 77
aiqbench calculează scorul de încredere din semnale publice. Nu este un audit de securitate, așa că citește un skill înainte să-l instalezi.
Skill-uri similare
Cele mai apropiate de acesta prin ce fac și când sunt folosite.
- gwas-databasejaechang-hits/SciAgent-SkillsNHGRI-EBI GWAS Catalog REST API for SNP-trait associations from published GWAS. Query studies, associations, variants, traits, genes, summary stats. Build PRS candidates, analyze pleiotropy, fetch stats for Manhattan plots. No auth.Date★ 383
- alterlab-gene-dbAlterLab-IEU/AlterLab-Academic-SkillsQuery NCBI Gene via the E-utilities and Datasets APIs, searching by gene symbol or Gene ID and retrieving gene information (RefSeqs, GO terms, genomic locations, associated phenotypes) including batch lookups. Use when resolving gene symbols to IDs, annotating gene lists, or pulling functional and positional gene metadata for downstream analysis. Part of the AlterLab Academic Skills suite.Știință★ 78
- alterlab-geoAlterLab-IEU/AlterLab-Academic-SkillsAccess NCBI GEO (Gene Expression Omnibus) for gene expression and functional genomics data — search and download microarray and RNA-seq datasets by GSE, GSM, GPL, or GDS accession and retrieve SOFT, MINiML, and series matrix files. Use when locating public expression datasets, fetching processed expression matrices, downloading a study's supplementary files, or sourcing per-study transcriptomics data for differential-expression analysis. For raw FASTQ sequencing reads by SRA/ENA run accession use alterlab-ena; for reference tissue-expression baselines (median TPM across human tissues) use alterlab-gtex; for cancer cohort somatic mutations and copy-number use alterlab-cbioportal. Part of the AlterLab Academic Skills suite.Știință★ 78
- alterlab-ensemblAlterLab-IEU/AlterLab-Academic-SkillsQuery the Ensembl genome database REST API across 250+ species for gene lookups, sequence retrieval, variant analysis, comparative genomics, orthologs, and Variant Effect Predictor (VEP) annotations. Use when mapping gene IDs or coordinates, fetching genomic sequence, finding orthologs across species, or predicting variant consequences for genomic research. Part of the AlterLab Academic Skills suite.Date★ 78
- alterlab-gtexAlterLab-IEU/AlterLab-Academic-SkillsQuery the GTEx (Genotype-Tissue Expression) portal v2 REST API for tissue-specific gene expression (median TPM across 54 human tissues), expression QTLs (eQTLs), and splicing QTLs (sQTLs). Use when checking which tissues express a gene, finding which gene a non-coding/GWAS variant regulates via eQTLs, or interpreting variant regulatory effects across tissues. NOT for curated trait-variant associations (use alterlab-gwas), population allele frequencies or variant constraint (use alterlab-gnomad), or gene/transcript structure and ID mapping (use alterlab-ensembl). Part of the AlterLab Academic Skills suite.Juridic★ 78
- alterlab-gnomadAlterLab-IEU/AlterLab-Academic-SkillsQuery gnomAD (Genome Aggregation Database) for population allele frequencies and gene constraint scores (pLI, LOEUF) reflecting loss-of-function intolerance. Use when checking how common a variant is across populations, filtering rare-disease candidate variants, assessing variant pathogenicity, or identifying loss-of-function intolerant genes. Part of the AlterLab Academic Skills suite.Date★ 78
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