muCNV: Genotyping Structural Variants for Population-level Sequencing.
Bioinformatics (Oxford, England)
Bioinformatics 2021 Mar 24:btab199
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.
AVAILABILITY: muCNV is publicly available for download at: https://github.com/gjun/muCNV.
SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Jun, Goo; Sedlazeck, Fritz; Zhu, Qihui; English, Adam; Metcalf, Ginger; Kang, Hyun Min; Variation Consortium, Human Genome Structural; Lee, Charles; Gibbs, Richard; and Boerwinkle, Eric, "muCNV: Genotyping Structural Variants for Population-level Sequencing." (2021). Faculty Research 2021. 179.