Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals.

ABSTRACT: Postzygotic single-nucleotide mutations (pSNMs) have been studied in cancer and a few other overgrowth human disorders at whole-genome scale and found to play critical roles. However, in clinically unremarkable individuals, pSNMs have never been identified at whole-genome scale largely due to technical difficulties and lack of matched control tissue samples, and thus the genome-wide characteristics of pSNMs remain unknown. We developed a new Bayesian-based mosaic genotyper and a series of effective error filters, using which we were able to identify 17 SNM sites from ~80× whole-genome sequencing of peripheral blood DNAs from three clinically unremarkable adults. The pSNMs were thoroughly validated using pyrosequencing, Sanger sequencing of individual cloned fragments, and multiplex ligatio

SUBMITTER: Huang AY 

PROVIDER: S-EPMC4220156 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature