gwas2crispr - GWAS-to-CRISPR Data Pipeline for High-Throughput SNP Target
Extraction
Provides a reproducible pipeline to conduct genome-wide
association studies (GWAS) and extract single-nucleotide
polymorphisms (SNPs) for a human trait or disease. Given
aggregated GWAS dataset(s) and a user-defined significance
threshold, the package retrieves significant SNPs from the GWAS
Catalog using supported trait identifiers, annotates their gene
context, and can write a harmonised metadata table in
comma-separated values (CSV) format, genomic intervals in the
Browser Extensible Data (BED) format, and sequences in the
FASTA (text-based sequence) format with user-defined flanking
regions for clustered regularly interspaced short palindromic
repeats (CRISPR) guide design. The existing efo_id argument is
retained for backward compatibility. The package prepares
computational artifacts for downstream workflows; it does not
perform biological causality testing, clinical interpretation,
therapeutic design, or wet-lab validation. For details on the
resources and methods see: Buniello et al. (2019)
<doi:10.1093/nar/gky1120>; Sollis et al. (2023)
<doi:10.1093/nar/gkac1010>; Jinek et al. (2012)
<doi:10.1126/science.1225829>.