ASHG 2014

Recent articles

Autism risk region arose during human evolution

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.

By Jessica Wright
11 August 2016 | 4 min read

Autism-linked deletion sparks symptoms via many genes

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.

By Jessica Wright
23 October 2014 | 4 min read

Massive sequencing database helps interpret mutations’ role

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.

By Jessica Wright
23 October 2014 | 5 min read

Scientists plan to release thousands of whole autism genomes

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.

By Jessica Wright
21 October 2014 | 3 min read

Whole-genome sequencing reveals new types of autism risk

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.

By Jessica Wright
20 October 2014 | 4 min read

Explore more from The Transmitter

Howard Hughes Medical Institute to limit eligible universities for Investigator Program in bid to spread the wealth

The next round of competition, slated for late 2025, will have a new focus, according to an HHMI spokesperson.

By Shaena Montanari
6 December 2024 | 2 min read
Black-and-white photograph of Bryan W Jones holding a camera and pointing it back at the photographer.

An eye for science: Q&A with Bryan W. Jones

The researcher explains how the beauty of the retina drew him into the vision field and why photography reminds him of the value of that work.

By Angie Voyles Askham
6 December 2024 | 7 min read
Human X and Y chromosomes.

Extra Y chromosomes are linked to autism

Data from people with more or fewer than two sex chromosomes could help answer questions around genetic protection and vulnerability.

By Grace Huckins
5 December 2024 | 5 min read