SMN1 copy-number and sequence variant analysis from next generation sequencing data

A webtool for the clinical interpretation of CNVs in rare disease patients

ClassifyCNV: a tool for clinical annotation of copy-number variants

A database for storing the classification of variants.

🔬 BEDOPS: high-performance genomic feature operations

Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data

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

Structural variant toolkit for VCFs

This is the official development repository for BCFtools. See installation instructions and other documentation here http://samtools.github.io/bcftools/howtos/install.html

lumpy: a general probabilistic framework for structural variant discovery

Structural variant and indel caller for mapped sequencing data

Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.

GenoTypes Compressor

ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.

Basic UPD caller

The Pharmacogenomic Clinical Annotation Tool

genetic variant expressions, annotation, and filtering for great good.

fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"