Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR.

ABSTRACT:

Background

Genotyping and massively-parallel sequencing projects result in a vast amount of diploid data that is only rarely resolved into its constituent haplotypes. It is nevertheless this phased information that is transmitted from one generation to the next and is most directly associated with biological function and the genetic causes of biological effects. Despite progress made in genome-wide sequencing and phasing algorithms and methods, problems assembling (and reconstructing linear haplotypes in) regions of repetitive DNA and structural variation remain. These dynamic and structurally complex regions are often poorly understood from a sequence point of view. Regions such as these that are highly similar in their sequence tend to be collapsed onto the genome assembly. This

SUBMITTER: Tyson J 

PROVIDER: S-EPMC3543183 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature