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)
JournalBioinformatics
Date Published2021 Mar 24
ISSN1367-4811
Abstract

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.

DOI10.1093/bioinformatics/btab199
Alternate JournalBioinformatics
PubMed ID33760063