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Roche logoThis article is part of a special issue on exome sequencing, and has been made free to access thanks to support from Roche Nimblegen.

Highly Accessed Review

Unlocking Mendelian disease using exome sequencing

Christian Gilissen*, Alexander Hoischen, Han G Brunner and Joris A Veltman

Author Affiliations

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands

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Genome Biology 2011, 12:228  doi:10.1186/gb-2011-12-9-228

Published: 14 September 2011

Abstract

Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease.