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Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

Peter N Robinson

Author Affiliations

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany

Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany

Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany

Genome Biology 2010, 11:144  doi:10.1186/gb-2010-11-12-144

Published: 21 December 2010

Abstract

Recent work has used a family-based approach and whole-exome sequencing to identify de novo mutations in sporadic cases of mental retardation.