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

Photo collage featuring a portrait of Tempest McDonald.

When autistic kids grow up, Chapter 4: How did things unfold?

Tempest McDonald sues Vanderbilt University Medical Center through the Equal Employment Opportunity Commission. Her published NIH paper finds allies.

By Brady Huggett
25 June 2026 | 27 min listen
Researchers looking at KEMRI biobank vials.

NeuroDev study maps previously unseen genetic variation in Africa

The project is helping to fill critical gaps in the genetic underpinnings of autism and other neurodevelopmental conditions.

By Brianna Abbott
25 June 2026 | 5 min read

Cooperating marmosets extend decision-making model of the brain

When a pair of marmosets works together to earn some marshmallow fluff, one of them decides to act only after its brain accumulates enough evidence about what the other is doing, new work shows.

By Calli McMurray
24 June 2026 | 1 min watch