muCNV: Genotyping Structural Variants for Population-level Sequencing.

TitlemuCNV: Genotyping Structural Variants for Population-level Sequencing.
Publication TypeJournal Article
Year of Publication2021
AuthorsJun, G, Sedlazeck, FJ, Zhu, Q, English, A, Metcalf, GA, Kang, HMin, Lee, C, Gibbs, RA, Boerwinkle, E
Corporate AuthorsHuman Genome Structural Variation Consortium (HGSVC)
Date Published2021 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:

SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Alternate JournalBioinformatics
PubMed ID33760063
PubMed Central IDPMC8496513
Grant ListR35 GM138212 / GM / NIGMS NIH HHS / United States
P30 CA034196 / CA / NCI NIH HHS / United States
UM1 HG008901 / HG / NHGRI NIH HHS / United States
R01 DK118631 / DK / NIDDK NIH HHS / United States
U24 HG007497 / HG / NHGRI NIH HHS / United States