| Title | muCNV: Genotyping Structural Variants for Population-level Sequencing. |
| Publication Type | Journal Article |
| Year of Publication | 2021 |
| Authors | Jun, G, Sedlazeck, FJ, Zhu, Q, English, A, Metcalf, GA, Kang, HMin, Lee, C, Gibbs, RA, Boerwinkle, E |
| Corporate Authors | Human Genome Structural Variation Consortium (HGSVC) |
| Journal | Bioinformatics |
| Volume | 37 |
| Issue | 14 |
| Pagination | 2055-7 |
| Date Published | 2021 Mar 24 |
| ISSN | 1367-4811 |
| 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. |
| DOI | 10.1093/bioinformatics/btab199 |
| Alternate Journal | Bioinformatics |
| PubMed ID | 33760063 |
| PubMed Central ID | PMC8496513 |
| Grant List | R35 GM138212 / GM / NIGMS NIH HHS / United States P30 CA034196 / CA / NCI NIH HHS / United States UM1 HG008901 / HG / NHGRI NIH HHS / United States R01 DK118631 / DK / NIDDK NIH HHS / United States U24 HG007497 / HG / NHGRI NIH HHS / United States |