|Title||muCNV: Genotyping Structural Variants for Population-level Sequencing.|
|Publication Type||Journal Article|
|Year of Publication||2021|
|Authors||Jun, G, Sedlazeck, FJ, Zhu, Q, English, A, Metcalf, GA, Kang, HMin, Lee, C, Gibbs, RA, Boerwinkle, E|
|Corporate Authors||Human Genome Structural Variation Consortium (HGSVC)|
|Date Published||2021 Mar 24|
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.