zhanxw / rvtests Star 141 Code Issues Pull requests Rare variant test software for next generation sequencing data c-plus-plus gwas kernel genetics ngs next-generation-sequencing variants meta-analysis genotype umich skat association-analysis rare-variant vcf-files Updated Jan 26, 2022 C++
coopsor / SVPG Star 25 Code Issues Pull requests Pangenome-based structural variation caller bioinformatics nanopore structural-variations rare-variant hifi pangenome somatic-variant Updated Jan 20, 2026 Python
Bloomed-Health / POLE-Frameshift Star 2 Code Issues Pull requests Discussions Research framework for POLE c.138del (p.Leu46Phefs*8); Confirmed germline pathogenic frameshift variant clinically consistent w/ PPAP (reported ultra-hypermutated; tumour signature confirmation pending). Mechanistic models, differential diagnosis, therapeutic strategies, and experimental priorities. ppap immunotherapy rare-variant pole mutational-signatures tumor-mutational-burden dna-repair precision-oncology cancer-genetics hereditary-cancer loss-of-heterozygosity polymerase-proofreading Updated Apr 25, 2026 TeX
vineetver / favor-cli Star 0 Code Issues Pull requests From raw variants to biological mechanisms in one tool rust bioinformatics annotation genomics whole-genome-sequencing rare-variant staar association-testing Updated Apr 22, 2026 Rust