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

What a bird’s-eye view of half a million papers reveals about neuroscience

New research uses artificial-intellligence-driven bibliometrics to map the structural organization of neuroscience across 25 years. The field it reveals is at once thriving and theoretically adrift.

By Mac Shine
6 April 2026 | 3 min read
Research image of fibroblasts creating a seal that separates the blood vessels in the choroid plexus from the rest of the brain.

Newly identified barrier cells seal off choroid plexus from CSF, rest of brain

A long-overlooked layer of fibroblasts exists inside the choroid plexus of mice and humans, adding complexity to the area’s compartmentalization.

By Claudia López Lloreda
3 April 2026 | 4 min read
Digital model of a fly next to a digital model of a nematode.

‘Digital sphinx’ raises questions about connectome models

The sphinx, with a worm’s brain and a fly’s body, illustrates the potential pitfalls of using deep-learning techniques to model biological processes.

By Natalia Mesa
2 April 2026 | 5 min read