Disease gene identification strategies for exome sequencing

Abstract

Next generation sequencing can be used to search for Mendelian disease genes in an unbiased manner by sequencing the entire protein-coding sequence, known as the exome, or even the entire human genome. Identifying the pathogenic mutation amongst thousands to millions of genomic variants is a major challenge, and novel variant prioritization strategies are… (More)
DOI: 10.1038/ejhg.2011.258

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