Computational and statistical approaches to analyzing variants identified by exome sequencing

Computational and statistical approaches to analyzing variants identified by exome sequencing

Nathan O Stitziel1,2†, Adam Kiezun2,3† and Shamil Sunyaev2,3*

http://genomebiology.com/2011/12/9/227

New sequencing technology has enabled the identification of thousands of single nucleotide polymorphisms in the exome, and many computational and statistical approaches to identify disease-association signals have emerged.

Here we review the computational and statistical approaches that have emerged for managing these data in this rapidly exploding field. First, we briefly review the process for identifying variants in next-generation sequencing (NGS) studies and then discuss strategies for identifying the causal variant in Mendelian disorders among the total number of variants identified. We also discuss strategies for identifying the causal gene(s) in complex diseases among all genes in the genome, before outlining some challenges facing current exome sequencing studies.