De novo mutations revealed by whole-exome sequencing are strongly associated with autism




De novo mutations revealed by whole-exome sequencing are strongly associated with autism by Stephan J. Sanders et. al.. published in Nature 485, 237–241 (10 May 2012) doi:10.1038/nature10945. Abstract Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants […]






Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations




Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations by Brian J. O’Roak et. al. published in Nature 485, 246–250 (10 May 2012) doi:10.1038/nature10989. Abstract It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is […]