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

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

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

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

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

Imagining the ultimate systems neuroscience paper

A growing body of papers on systems neuroscience and on giant simulations of neural circuits involves data beyond the point that anyone can reasonably understand end to end. Looking ahead, “paper-bots” could solve that problem.

By Mark Humphries
2 December 2024 | 8 min read
Illustration of a pen hovering over a gene sequence-like series of colored rectangles.

This paper changed my life: ‘Histone demethylation mediated by the nuclear amine oxidase homolog LSD1,’ from the Shi Lab

This paper defined key rules of epigenomic regulation and shaped how I study chromatin plasticity as a mechanism for experience-dependent changes in the brain.

By Anne E. West
27 November 2024 | 5 min read

What’s next for brain-directed gene therapy after death in Neurogene trial

The incident highlights that viral vectors can trigger deadly immune responses even when delivered directly to the nervous system.

By Calli McMurray
26 November 2024 | 6 min read