muCNV: Genotyping Structural Variants for Population-level Sequencing.
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Bioinformatics
Journal subject:
INFORMATICA MEDICA
Year:
2021
Type:
Article
Affiliation country:
United States