germline topic

Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing

nf-core

DELLY2: Structural variant discovery by integrated paired-end and split-read analysis

dellytools

Generic human DNA variant annotation pipeline

sigven

VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number variants (CNVs) from targeted next-generation sequencing data. Fo...

pughlab