Autism-Related Mutations ... Autism Spectrum Disorder (ASD) is a highly heritable disease involving more than 100 genes. However, because of the large numbers of genes involved, a complete picture of the genetics involved has been elusive. Now, an American Journal of Human Genetics has shown that sequencing genomes in their entirety can reveal even more information on ASD-related mutations. The study used whole-genome sequencing to detect de novo (new mutations) and rare inherited genetic variants in 32 families affected by ASD. Several of the genes identified in this study had previously been linked to ASD or related condition, such as intellectual disability and seizures. This new study shows that whole-genome sequence as opposed to RNA studies, or only sequencing exons can yield better and more complete results. Source cell/AJHG/abstract/S0002-9297(13)00281-4
Posted on: Mon, 29 Jul 2013 21:04:13 +0000
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