The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes

BACKGROUND: Identifying insertion/deletion polymorphisms (INDELs) with high confidence has been intrinsically challenging in short-read sequencing data. Here we report our approach for improving INDEL calling accuracy by using a machine learning algorithm to combine call sets generated with three in...

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Vydáno v:BMC Genomics
Hlavní autoři: Challis, Danny, Antunes, Lilian, Garrison, Erik, Banks, Eric, Evani, Uday S, Muzny, Donna, Poplin, Ryan, Gibbs, Richard A, Marth, Gabor, Yu, Fuli
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352271/
https://ncbi.nlm.nih.gov/pubmed/25765891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-015-1333-7
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