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Autism Genome 10K Project

Autism is rooted in genetics, including the mutation of certain genes that result in a failure of neurons in the brain to properly connect. Based on earlier genetic research funded by Autism Speaks, such as the Autism Genome Project (AGP), scientists have discovered some of these genes. But much more gene discovery needs to take place. The Autism Genome 10K Project will mark a substantial leap forward on this journey.

The Autism Genome 10K Project builds on the successes of Autism Speaks’ Autism Genetic Resource Exchange program (AGRE), a high-quality collection of more than 12,000 DNA samples from families affected by autism. The AGRE program has facilitated many high-impact scientific discoveries in recent years, including the risk genes discovered by the AGP and other researchers. With BGI sequencing the full complement of 10,000 samples collected by AGRE and collaborators in China, Autism Genome 10K leverages BGI’s cutting-edge expertise and globally unrivaled capacity for high-quality genome sequencing.


The project is being conducted in three phases. Phase 1, the completed pilot study, consisted of studying 200 samples, including 33 Caucasian trios, 33 Chinese trios. Its findings will be published in related scientific magazines. Phase 2 will involve the sequencing of an additional 2,800 samples from AGRE and China, and phase 3 will complete this historic collaborative effort in autism genetics by bringing the total number of genome sequenced to 10,000.


Project Progress

The Autism Genome 10K project is a research collaboration on the genetics and genomics of autism among Autism Speaks, BGI, and many other research institutes and hospitals such as Beijing Institutes of Life Science, Chinese Academy of Sciences, Central South University Xiangya School of Medicine, and Children’s Hospital of Fudan University. 10,000 human genomes will be analyzed in this project within the next 2 to 3 years. The goals of the project are to discover the genetics markers and risk genes of autism and to aid the development of novel diagnostics and treatments.

The primary analysis of the first 100 samples from phase Ⅰ of the project has been completed. The next 100 samples will be sequenced and analyzed in April 2012.

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