Towards accurate characterization of clonal heterogeneity based on structural variation.

ABSTRACT:

Background

Recent advances in deep digital sequencing have unveiled an unprecedented degree of clonal heterogeneity within a single tumor DNA sample. Resolving such heterogeneity depends on accurate estimation of fractions of alleles that harbor somatic mutations. Unlike substitutions or small indels, structural variants such as deletions, duplications, inversions and translocations involve segments of DNAs and are potentially more accurate for allele fraction estimations. However, no systematic method exists that can support such analysis.

Results

In this paper, we present a novel maximum-likelihood method that estimates allele fractions of structural variants integratively from various forms of alignment signals. We develop a tool, BreakDown, to estimate the allele fractio

SUBMITTER: Fan X 

PROVIDER: S-EPMC4165998 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature