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Science. 2017 Feb 17;355(6326):752-756. doi: 10.1126/science.aai8690.

DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification.

Author information

1
New England Biolabs Inc., 240 County Road, Ipswich, MA 01938-2723, USA.
2
New England Biolabs Inc., 240 County Road, Ipswich, MA 01938-2723, USA. evanst@neb.com ettwiller@neb.com.

Abstract

Mutations in somatic cells generate a heterogeneous genomic population and may result in serious medical conditions. Although cancer is typically associated with somatic variations, advances in DNA sequencing indicate that cell-specific variants affect a number of phenotypes and pathologies. Here, we show that mutagenic damage accounts for the majority of the erroneous identification of variants with low to moderate (1 to 5%) frequency. More important, we found signatures of damage in most sequencing data sets in widely used resources, including the 1000 Genomes Project and The Cancer Genome Atlas, establishing damage as a pervasive cause of sequencing errors. The extent of this damage directly confounds the determination of somatic variants in these data sets.

PMID:
28209900
DOI:
10.1126/science.aai8690
[Indexed for MEDLINE]

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