Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing.

ABSTRACT:

Background

The emergence of next-generation sequencing technology presents tremendous opportunities to accelerate the discovery of rare variants or mutations that underlie human genetic disorders. Although the complete sequencing of the affected individuals' genomes would be the most powerful approach to finding such variants, the cost of such efforts make it impractical for routine use in disease gene research. In cases where candidate genes or loci can be defined by linkage, association, or phenotypic studies, the practical sequencing target can be made much smaller than the whole genome, and it becomes critical to have capture methods that can be used to purify the desired portion of the genome for shotgun short-read sequencing without biasing allelic representation or coverage.

SUBMITTER: Lee H 

PROVIDER: S-EPMC2808330 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature