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muCNV: Genotyping Structural Variants for Population-level Sequencing.
Jun, Goo; Sedlazeck, Fritz; Zhu, Qihui; English, Adam; Metcalf, Ginger; Kang, Hyun Min; Lee, Charles; Gibbs, Richard; Boerwinkle, Eric.
Affiliation
  • Jun G; Human Genetics Center, University of Texas Health Science Center at Houston, 1200 Pressler St., Houston, TX 77030, USA.
  • Sedlazeck F; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Olaza, Houston, TX 77030, USA.
  • Zhu Q; Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • English A; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Olaza, Houston, TX 77030, USA.
  • Metcalf G; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Olaza, Houston, TX 77030, USA.
  • Kang HM; Department of Biostatistics, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109, USA.
  • Lee C; Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Gibbs R; Human Genome Sequencing Center, Baylor College of Medicine, 1 Baylor Olaza, Houston, TX 77030, USA.
  • Boerwinkle E; Human Genetics Center, University of Texas Health Science Center at Houston, 1200 Pressler St., Houston, TX 77030, USA.
Bioinformatics ; 2021 Mar 24.
Article in En | MEDLINE | ID: mdl-33760063
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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Full text: 1 Database: MEDLINE Language: En Year: 2021 Type: Article
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Full text: 1 Database: MEDLINE Language: En Year: 2021 Type: Article