This article is part of a special issue on exome sequencing, and has been made free to access thanks to support from Roche Nimblegen.
Unlocking Mendelian disease using exome sequencing
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
Genome Biology 2011, 12:228 doi:10.1186/gb-2011-12-9-228Published: 14 September 2011
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.