muCNV: Genotyping Structural Variants for Population-level Sequencing.
Document Type
Article
Publication Date
3-24-2021
Publication Title
Bioinformatics (Oxford, England)
Keywords
JGM
JAX Source
Bioinformatics 2021 Mar 24:btab199
ISSN
1367-4811
PMID
33760063
DOI
https://doi.org/10.1093/bioinformatics/btab199
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.
Recommended Citation
Jun G,
Sedlazeck F,
Zhu Q,
English A,
Metcalf G,
Kang H,
Variation Consortium HS,
Lee C,
Gibbs R,
Boerwinkle E.
muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics 2021 Mar 24:btab199