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Top 2 rare-disease open source projects

Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.

✭ 24

python groovy shell r rna-seq cancer transcriptomics structural-variation duplications rare-disease gene-fusions cryptic-variants

rare-disease-wf

(WIP) best-practices workflow for rare disease

✭ 47

Nextflow HTML SystemVerilog Dockerfile python genomics variants rare-disease

1-2 of 2 rare-disease projects