A probabilistic method for the detection and genotyping of small indels from population-scale sequence data.

ABSTRACT:

Motivation

High-throughput sequencing technologies have made population-scale studies of human genetic variation possible. Accurate and comprehensive detection of DNA sequence variants is crucial for the success of these studies. Small insertions and deletions represent the second most frequent class of variation in the human genome after single nucleotide polymorphisms (SNPs). Although several alignment tools for the gapped alignment of sequence reads to a reference genome are available, computational methods for discriminating indels from sequencing errors and genotyping indels directly from sequence reads are needed.

Results

We describe a probabilistic method for the accurate detection and genotyping of short indels from population-scale sequence data. In this approach, a

SUBMITTER: Bansal V 

PROVIDER: S-EPMC3137221 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature