ASHG 2020

Recent articles

Group of DNA helixes are seen on black

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

By Laura Dattaro
2 November 2020 | 4 min read

Reactions from ASHG 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

By Laura Dattaro
30 October 2020 | 8 min read
Black mother pushing her child on swing at playground.

First analysis of African autism cohort reveals millions of new variants

Genome sequences from a research cohort of autistic African children and their families have revealed more than 4 million novel variants, some of which occur in genes not previously linked to the condition.

By Laura Dattaro
29 October 2020 | 4 min read
Mature dad and his daughter plays with blocks

Parental age plays small role in large mutations tied to autism

Most of the large, spontaneous genetic mutations tied to autism are passed down from fathers. But, unlike with smaller mutations, a parent's age is unlikely to up the rate at which they occur.

By Laura Dattaro
26 October 2020 | 4 min read

Explore more from The Transmitter

Clockwise: lab mouse, zebrafish, octopus, rat pushing a cube, nematodes, fruit fly.

The term ‘model organism’ should be reserved for biological systems

By referring to artificial neural networks as model organisms, we run the risk of distorting funding priorities and disregard the explanatory power of a shared evolutionary history across biological organisms.

By Marc Coutanche
13 November 2026 | 6 min read

New phase of BRAIN Initiative spawns basal ganglia ‘parts list’

With a standardized cell naming system and infrastructure for data collection and analysis, the basal ganglia project sets the stage for a whole-brain primate atlas.

By Claudia López Lloreda
12 November 2026 | 1 min watch
Research image showing genes containing microexons in mice.

Machine-learning model spots autism-linked variants that scramble splicing

The model provides a way to investigate genetic variation in regions of the genome whose functions have been difficult to interpret.

By Giorgia Guglielmi
12 November 2026 | 4 min read