Journal
NATURE GENETICS
Volume 51, Issue 4, Pages 749-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41588-019-0366-2
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Funding
- National Human Genome Research Institute [T32HG002295]
- National Institute of Mental Health [U01MH106883]
- Ludwig Center at Harvard Medical School
- European Union (Marie Curie Sklodowska-Curie grant) [703543]
- Marie Curie Actions (MSCA) [703543] Funding Source: Marie Curie Actions (MSCA)
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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 singlenucleotide 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.
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