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Top 6 variant-analysis open source projects

What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.

✭ 22

C#benchmarking variants cnv copy-number-variation variant-analysis structural-variation

PlatinumGenomes

The Platinum Genomes Truthset

✭ 67

indels variant-analysis snvs

echt rapid variant annotation and filtering

✭ 72

rust python shell Dockerfile genomics variant-annotations genetic-variants variant-analysis

A modular annotation tool for genomic variants

✭ 74

javascript python CSS HTML Jupyter Notebook bioinformatics genomics bioinformatics-pipeline annotation-tool variant-annotations variant-annotation variant-analysis genomic-data-analysis bioinformatics-tool

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

✭ 31

java python groovy variants disease phenotypes variant-annotations variant-analysis omim vcf-files translationalscience prioritize-disease-variants rare-variants synthetic-genomes

simuG: a general-purpose genome simulator

✭ 68

perl genomics simulation variant-analysis structural-variation

1-6 of 6 variant-analysis projects