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Accurate, scalable cohort variant calls using DeepVariant and GLnexus

MOTIVATION: Population-scale sequenced cohorts are foundational resources for genetic analyses, but processing raw reads into analysis-ready cohort-level variants remains challenging. RESULTS: We introduce an open-source cohort-calling method that uses the highly accurate caller DeepVariant and scal...

תיאור מלא

מידע ביבליוגרפי
Autores principales: Yun, Taedong, Li, Helen, Chang, Pi-Chuan, Lin, Michael F, Carroll, Andrew, McLean, Cory Y
פורמט: Online Artículo Texto
שפה:English
יצא לאור: Oxford University Press 2021
נושאים:
גישה מקוונת:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023681/
https://www.ncbi.nlm.nih.gov/pubmed/33399819
http://dx.doi.org/10.1093/bioinformatics/btaa1081