Title

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.

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