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

Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Links between tuberous sclerosis complex and autism, and more

Here is a roundup of autism-related news and research spotted around the web for the week of 17 August.

By Jill Adams
18 August 2026 | 1 min read
Taylor Bolt photo illustration.

The fun and flexibility of data science

Taylor Bolt spent his Ph.D. and postdoc digging through brain imaging data for clues to cognition. In industry, the datasets are different but the joy of answering questions with data remains.

By Katie Moisse
18 August 2026 | 7 min read
Two trajectories cross over each other showing areas of alignment and misalignment.

Mind over metrics: How can we tell if two brains (or AI models) are alike?

The ability to record from large populations of neurons has triggered the development of myriad methods for comparing them. But we’re still grappling with how to convert measures of likeness into a better mechanistic understanding.

By Alex Williams
17 August 2026 | 7 min read