variant-analysis topic

non-redundant, compressed, journalled, file-based storage for biological sequences

biocommons

This package scales the huge gnomAD files to a SQLite database, which is easy and fast to query. It extracts from a gnomAD vcf the minor allele frequency for each variant.

KalinNonchev

High-level API for storing and querying sequence variant data

mklarqvist

A phenotype-based tool for variant prioritization in WES and WGS data

bio-ontology-research-group

provides common tools and lookup tables used primarily by the hgvs and uta packages

biocommons

visual analysis of your VCF files

cccnrc

a C++ API of htslib to be easily integrated and safely used. More importantly, it can be callled seamlessly in R/Python/Julia etc.

Zilong-Li

Atom is a novel intermediate representation for applications and a standalone tool that is powered by chen.

AppThreat

VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants

Yandell-Lab

R tools to interact with hap.py output

Illumina