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
Spectrum from The Transmitter.

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
Spectrum from The Transmitter.

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
Spectrum from The Transmitter.

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
Spectrum from The Transmitter.

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

It’s time to examine neural coding from the message’s point of view

In studying the brain, we almost always take the neuron’s perspective. But we can gain new insights by reorienting our frame of reference to that of the messages flowing over brain networks.

By Daniel Graham
1 April 2025 | 0 min watch
Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Autism traits, mental health conditions interact in sex-dependent ways in early development

Here is a roundup of autism-related news and research spotted around the web for the week of 31 March.

By Jill Adams
1 April 2025 | 2 min read
Research image of an assembloid.

Organoids and assembloids offer a new window into human brain

These sophisticated 3D cultures reveal previously inaccessible stages of human brain development and enable the systematic study of disease genes.

By Sergiu P. Pasca
31 March 2025 | 6 min read