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muCNV: Genotyping Structural Variants for Population-level Sequencing.

Bioinformatics (Oxford, England) - 4 Aug 2021

Jun Goo, Sedlazeck Fritz, Zhu Qihui, English Adam, Metcalf Ginger, Kang Hyun Min, Lee Charles, Gibbs Richard, Boerwinkle Eric

Abstract excerpt

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...

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PMID: 33760063
DOI: 10.1093/bioinformatics/btab199
PMCID: PMC8496513

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