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BGI, partners' whole genome sequencing research shows positive findings in autism diagnosis, therapy.

M2 PHARMA-July 12, 2013-BGI, partners' whole genome sequencing research shows positive findings in autism diagnosis, therapy(C)2013 M2 COMMUNICATIONS

12 July 2013 - Chinese genome mapping specialist BGI said today that findings by an international consortium demonstrated that whole genome sequencing and analysis shows promise in identifying de novo or rare inherited mutations that give rise to autism in autism spectrum disorder (ASD) groups.

The consortium, which includes Autism Speaks, Duke University School of Medicine, The Hospital for Sick Children of Toronto, BGI and other institutes, evaluated the genetic variants in 32 families with ASD. Results were published in the American Journal of Human Genetics.

The study shows that the proportions of deleterious de novo mutations and X-linked or autosomal inherited alterations are higher than the previous reports with 19% and 31%, respectively. Researchers speculated the partial reason maybe the more comprehensive and uniform coverage afforded by WGS. Compared to exome sequencing technology, WGS also demonstrates advantages in efficiency and accuracy, BGI added.

Scientists also identified the deleterious mutations variants in four novel, nine known, and eight candidate autism risk genes, including CAPRIN1 and AFF2 (both linked to FMR1 involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (also linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.

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Publication:M2 Pharma
Date:Jul 12, 2013
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