muCNV: Genotyping Structural Variants for Population-level Sequencing.
Journal
Bioinformatics (Oxford, England)
ISSN: 1367-4811
Titre abrégé: Bioinformatics
Pays: England
ID NLM: 9808944
Informations de publication
Date de publication:
24 Mar 2021
24 Mar 2021
Historique:
received:
10
07
2020
revised:
31
01
2021
accepted:
13
03
2021
entrez:
24
3
2021
pubmed:
25
3
2021
medline:
25
3
2021
Statut:
aheadofprint
Résumé
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. 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. muCNV is publicly available for download at: https://github.com/gjun/muCNV. Supplementary data are available at Bioinformatics online.
Identifiants
pubmed: 33760063
pii: 6184858
doi: 10.1093/bioinformatics/btab199
pmc: PMC8496513
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIGMS NIH HHS
ID : R35 GM138212
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA034196
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008901
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK118631
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007497
Pays : United States
Informations de copyright
© The Author(s) (2021). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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