variant-annotation topic
open-cravat
A modular annotation tool for genomic variants
VCF-Simplify
A python parser to simplify and build the VCF (Variant Call Format).
BedAnno
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
raredisease
Call and score variants from WGS/WES of rare disease patients.
jannovar
Annotation of VCF variants with functional impact and from databases (executable+library)
HmtNote
Human mitochondrial variants annotation using HmtVar.
echolocatoR
Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
genome-seek
Clinical Whole Genome and Exome Sequencing Pipeline