variant-annotation topic
List
variant-annotation repositories
open-cravat
109
Stars
26
Forks
Watchers
A modular annotation tool for genomic variants
VCF-Simplify
45
Stars
12
Forks
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A python parser to simplify and build the VCF (Variant Call Format).
BedAnno
18
Stars
5
Forks
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Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
raredisease
73
Stars
34
Forks
Watchers
Call and score variants from WGS/WES of rare disease patients.
jannovar
54
Stars
37
Forks
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Annotation of VCF variants with functional impact and from databases (executable+library)
HmtNote
16
Stars
1
Forks
Watchers
Human mitochondrial variants annotation using HmtVar.
echolocatoR
29
Stars
11
Forks
Watchers
Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
genome-seek
16
Stars
8
Forks
Watchers
Clinical Whole Genome and Exome Sequencing Pipeline