Statistical modeling for sensitive detection of low-frequency single nucleotide variants.

ABSTRACT:

Background

Sensitive detection of low-frequency single nucleotide variants carries great significance in many applications. In cancer genetics research, tumor biopsies are a mixture of normal and tumor cells from various subpopulations due to tumor heterogeneity. Thus the frequencies of somatic variants from a subpopulation tend to be low. Liquid biopsies, which monitor circulating tumor DNA in blood to detect metastatic potential, also face the challenge of detecting low-frequency variants due to the small percentage of the circulating tumor DNA in blood. Moreover, in population genetics research, although pooled sequencing of a large number of individuals is cost-effective, pooling dilutes the signals of variants from any individual. Detection of low frequency variants is difficu

SUBMITTER: Hao Y 

PROVIDER: S-EPMC5001245 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature