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

Photograph of the BRIDGE team and students visiting a laboratory.

Sharing Africa’s brain data: Q&A with Amadi Ihunwo

These data are “virtually mandatory” to advance neuroscience, says Ihunwo, a co-investigator of the Brain Research International Data Governance & Exchange (BRIDGE) initiative, which seeks to develop a global framework for sharing, using and protecting neuroscience data.

By Lauren Schenkman
20 May 2025 | 6 min read
Research image of neurite overgrowth in cells grown from people with autism-linked PPP2R5D variants.

Cortical structures in infants linked to future language skills; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 19 May.

By Jill Adams
20 May 2025 | 2 min read
Digitally distorted building blocks.

The BabyLM Challenge: In search of more efficient learning algorithms, researchers look to infants

A competition that trains language models on relatively small datasets of words, closer in size to what a child hears up to age 13, seeks solutions to some of the major challenges of today’s large language models.

By Alona Fyshe
19 May 2025 | 7 min read