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Search results for variants gemini

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a lightweight db framework for exploring genetic variation.

Variant caller GUI + genetic disease analysis

Annotatevariants ⭐ 14

This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions for software installs.

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

Inheritance ⭐ 7

inheritance models for mendelian diseases

excel report generation using data from bcbio variant2 germline pipeline

Oncogemini ⭐ 5

Tutorials ⭐ 5

bioinformatics tutorials

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