| Literature DB >> 30886424 |
Craig L Bohrson1,2, Alison R Barton1,2, Michael A Lodato3,4,5, Rachel E Rodin3,4,5,6, Lovelace J Luquette1,2, Vinay V Viswanadham1,2, Doga C Gulhan1, Isidro Cortés-Ciriano1,7, Maxwell A Sherman1, Minseok Kwon1, Michael E Coulter3,4,5,6, Alon Galor1, Christopher A Walsh3,4,5, Peter J Park8.
Abstract
Whole-genome sequencing of DNA from single cells has the potential to reshape our understanding of mutational heterogeneity in normal and diseased tissues. However, a major difficulty is distinguishing amplification artifacts from biologically derived somatic mutations. Here, we describe linked-read analysis (LiRA), a method that accurately identifies somatic single-nucleotide variants (sSNVs) by using read-level phasing with nearby germline heterozygous polymorphisms, thereby enabling the characterization of mutational signatures and estimation of somatic mutation rates in single cells.Entities:
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Year: 2019 PMID： 30886424 PMCID： PMC6900933 DOI： 10.1038/s41588-019-0366-2
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330