molgenis/molgenis-cargo
Easily run existing MOLGENIS releases on your local machine
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Easily run existing MOLGENIS releases on your local machine
Implementation of a hadoop (map-reduce) Next-Generation Sequencing pipeline for fast single sample genetic diagnostics.
Gene specific calibrations for CADD scores based on ClinVar, ExAC and SnpEff
Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV) detection in high coverage next-generation sequencing (NGS) data