muCNV: genotyping structural variants for population-level sequencing.
- Resource Type
- Article
- Authors
- Jun, Goo; Sedlazeck, Fritz; Zhu, Qihui; English, Adam; Metcalf, Ginger; Kang, Hyun Min; (HGSVC), Human Genome Structural Variation Consortium; Lee, Charles; Gibbs, Richard; Boerwinkle, Eric
- Source
- Bioinformatics. 7/15/2021, Vol. 37 Issue 14/15, p2055-2057. 3p.
- Subject
- *SUPPLY & demand
*BIOINFORMATICS
- Language
- ISSN
- 1367-4803
Motivation There are high demands for joint genotyping of structural variations with short-read sequencing, but efficient and accurate genotyping in population scale is a challenging task. Results We developed muCNV that aggregates per-sample summary pileups for joint genotyping of >100 000 samples. Pilot results show very low Mendelian inconsistencies. Applications to large-scale projects in cloud show the computational efficiencies of muCNV genotyping pipeline. Availabilityand implementation muCNV is publicly available for download at: https://github.com/gjun/muCNV. Supplementary information Supplementary data are available at Bioinformatics online. [ABSTRACT FROM AUTHOR]