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

Headshots of Yale researchers Yong-Hui Jiang and Jiangbing Zhou.

Supported by a $40 million NIH grant, Yale brain shuttle technology raises questions

Yale University claims its STEP platform might be able to deliver gene-editing tools into the brain via multiple routes. Researchers are eager to see more.

By Natalia Mesa
3 June 2026 | 11 min read

What counts as a ‘naturalistic’ behavior?

Nedah Nemati explains how neuroscience methods and the lived experience of the scientists themselves shape how we define the behaviors we seek to explain.

By Paul Middlebrooks
3 June 2026 | 1 min read
Research image of brain cells involved with Amyotrophic lateral sclerosis (ALS) illuminated through genetic tools

Allen Institute sets sights on treatments for five brain diseases

The Brain Health Accelerator program aims to harness single-cell transcriptomics and cell-type-specific genetic tools to develop treatments for Alzheimer’s, Huntington’s and Parkinson’s diseases, Lewy body dementia and ALS.

By Calli McMurray
2 June 2026 | 5 min read