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novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data

MOTIVATION: De novo mutations (i.e. newly occurring mutations) are a pre-dominant cause of sporadic dominant monogenic diseases and play a significant role in the genetics of complex disorders. De novo mutation studies also inform population genetics models and shed light on the biology of DNA repli...

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Библиографические подробности
Опубликовано в: :Bioinformatics
Главные авторы: Mohanty, Anwoy Kumar, Vuzman, Dana, Francioli, Laurent, Cassa, Christopher, Toth-Petroczy, Agnes, Sunyaev, Shamil
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2019
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6449753/
https://ncbi.nlm.nih.gov/pubmed/30169785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bty749
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