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Bioinformatics (Oxford, England) DOI:10.1093/bioinformatics/btu356

Toward better understanding of artifacts in variant calling from high-coverage samples.

Publication TypeJournal Article
Year of Publication2014
AuthorsLi, H
JournalBioinformatics (Oxford, England)
Date Published2014/06/27
ISSN1367-4803
Abstract

Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the leading causal artifacts still remain unclear even given the great efforts in the evaluation of variant calling methods.

URLhttp://bioinformatics.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=24974202
DOI10.1093/bioinformatics/btu356
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24974202?dopt=Abstract