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Phenopolis ⭐ 32

An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data

1000 Genomes Project Metadata R Package

Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores and annotations from popular disease databases. Seave stores genomic variation of all types and sizes, and allows filtering for specific inheritance patterns, quality values, allele frequencies and gene lists. Seave is open source and deployable locally, or on a cloud computing provider, and works readily with gene panel, exome and whole genome data, scaling fr

Tostadas ⭐ 10

🧬 💻 TOSTADAS → Toolkit for Open Sequence Triage, Annotation and DAtabase Submission

Seq Collection ⭐ 9

mitochondrial variant analysis tools

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