ga4gh-server
Reference implementation of the APIs defined in ga4gh-schemas. RETIRED 2018-01-24
https://github.com/bartongroup/proteofav
Open-source framework for simple and fast integration of protein structure data with sequence annotations and genetic variation
https://github.com/bigbio/pgt-pangenome
Protegenomics analysis based on Pangenome references
variant_infections_rate
Repository with codes to the paper 'Combining genomic data and infection estimates to characterize the complex dynamics of SARS-CoV-2 Omicron variants in the United States'
hiphase
Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads
wacline
WacLine is a software product line that allows configuration and derivation of web annotation browser extensions for specific domains using pure::variants
enhancer-gene-vis
A tool for visualizing ABC enhancer-gene connections in the context of genetic variants.
https://github.com/andih/cuda-fortran-stream
Variant of STREAM Benchmark in CUDA Fortran
https://github.com/danymukesha/ensembl-variant-lookup
Python tool built for a user-friendly interface for searching individual variants, batch queries, and exploring gene regions from the Ensembl database.
https://github.com/brentp/rare-disease-wf
(WIP) best-practices workflow for rare disease
https://github.com/clinical-genomics/mip
Mutation Identification Pipeline. Read the latest documentation:
https://github.com/broadinstitute/2018_04_12_t2d_v2f_saadat_broad
cpg0011-lipocyteprofiler - Batch1 and Batch3