Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing.

ABSTRACT:

Background

Exome sequencing has transformed human genetic analysis and may do the same for other vertebrate model systems. However, a major challenge is sifting through the large number of sequence variants to identify the causative mutation for a given phenotype. In models like Xenopus tropicalis, an incomplete and occasionally incorrect genome assembly compounds this problem. To facilitate cloning of X. tropicalis mutants identified in forward genetic screens, we sought to combine bulk segregant analysis and exome sequencing into a single step.

Results

Here we report the first use of exon capture sequencing to identify mutations in a non-mammalian, vertebrate model. We demonstrate that bulk segregant analysis coupled with exon capture sequencing is not only able to identif

SUBMITTER: del Viso F 

PROVIDER: S-EPMC3526394 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature