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

Abstract illustration of a human brain.

‘Elusive Cures: Why Neuroscience Hasn’t Solved Brain Disorders—and How We Can Change That,’ an excerpt

In her new book, published today, neuroscientist Nicole Rust takes us on her personal quest to spell out the brain research community's "Grand Plan."

By Nicole Rust
10 June 2025 | 9 min read
Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Convergent effects of autism-linked genes in zebrafish; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 9 June.

By Jill Adams
10 June 2025 | 2 min read
Research image containing repeated structures, suggesting potential image manipulation.

More than two dozen papers by neural tube researcher come under scrutiny

One of the studies, published in 2021 in Science Advances, received an editorial expression of concern on 21 May, after the journal learned that an institutional review of alleged image problems is underway.

By Claudia López Lloreda
9 June 2025 | 6 min read