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American Society of Human Genetics 2014

ASHG 2014

Autism risk region arose during human evolution

by  /  11 August 2016
Humans may be uniquely prone to rearrangements of chromosome 16 that lead to autism, according to preliminary results presented Saturday at the American Society of Human Genetics Annual Meeting in San Diego.
ASHG 2014

Autism-linked deletion sparks symptoms via many genes

by  /  23 October 2014
Deletion or duplication of 16p11.2, a chromosomal region linked to autism, may trigger symptoms via the interactions of genes both within and outside the region at a key point in development. Researchers presented these preliminary results Sunday at the 2014 American Society of Human Genetics Annual Meeting in San Diego.
ASHG 2014

Massive sequencing database helps interpret mutations’ role

by  /  23 October 2014
Researchers have analyzed more than 90,000 exomes — the protein-coding regions of the genome — the largest such set yet, they announced Monday at the American Society of Human Genetics Annual Meeting in San Diego. The resource gives scientists an invaluable tool to probe the significance of specific mutations.
October 2014
ASHG 2014

Scientists plan to release thousands of whole autism genomes

by  /  21 October 2014

Researchers have sequenced the whole genomes of 1,000 people with autism and their parents, they announced yesterday at the American Society of Human Genetics Annual Meeting in San Diego. These sequences, and another 1,000 that are on the way, will eventually be freely available online.

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ASHG 2014

Whole-genome sequencing reveals new types of autism risk

by  /  20 October 2014

Much of the genetic risk for autism may reside in regulatory regions of the genome, hidden from traditional methods of sequence analysis. That’s the upshot of preliminary results from three studies presented yesterday at the American Society of Human Genetics Annual Meeting in San Diego.

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