Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project.

ABSTRACT: Next-generation genotyping microarrays have been designed with insights from large-scale sequencing of exomes and whole genomes. The exome genotyping arrays promise to query the functional regions of the human genome at a fraction of the sequencing cost, thus allowing large number of samples to be genotyped. However, two pertinent questions exist: firstly, how representative is the content of the exome chip for populations not involved in the design of the chip; secondly, can the content of the exome chip be imputed with the reference data from the 1000 Genomes Project (1KGP). By deep whole-genome sequencing two Asian populations that are not part of the 1KGP, comprising 96 Southeast Asian Malays and 36 South Asian Indians for which the same samples have also been genotyped on both the Ill

SUBMITTER: Tantoso E 

PROVIDER: S-EPMC4159276 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature