bionano annovar annotation

Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data

My lab book for current project: Identifying structural variation in WGS data

An accurate pipeline for predicting the pathogenicity of human exon structural variants

Explore and filter structural variant calls from Lumpy and Delly VCF files

A scalable variant calling and benchmarking framework supporting both short and long reads.

A straightforward and complete next-generation sequencing read simulator

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

simuG: a general-purpose genome simulator