A scalable variant calling and benchmarking framework supporting both short and long reads.
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Updated
May 24, 2024 - Perl
A scalable variant calling and benchmarking framework supporting both short and long reads.
Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
A straightforward and complete next-generation sequencing read simulator
An accurate pipeline for predicting the pathogenicity of human exon structural variants
Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data
simuG: a general-purpose genome simulator
Explore and filter structural variant calls from Lumpy and Delly VCF files
bionano annovar annotation
My lab book for current project: Identifying structural variation in WGS data
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