Integrating dilution-based sequencing and population genotypes for single individual haplotyping.

ABSTRACT:

Background

Haplotype information is useful for many genetic analyses and haplotypes are usually inferred using computational approaches. Among such approaches, the importance of single individual haplotyping (SIH), which infers individual haplotypes from sequence fragments, has been increasing with the advent of novel sequencing techniques, such as dilution-based sequencing. These techniques could produce virtual long read fragments by separating DNA fragments into multiple low-concentration aliquots, sequencing and mapping each aliquot, and merging clustered short reads. Although these experimental techniques are sophisticated, they have the problem of producing chimeric fragments whose left and right parts match different chromosomes. In our previous research, we found that chime

SUBMITTER: Matsumoto H 

PROVIDER: S-EPMC4162929 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature