Whole-genome sequencing

Recent articles

Illustration of two silhouettes overlaid by opaque square panels.

Why hasn’t genetics taught us more about schizophrenia?

Large-scale genomics studies have failed to identify specific pathways that go awry in schizophrenia. Alternative approaches focusing on cellular, molecular and systems-level changes may be needed.

By Joshua R. Sanes
18 February 2025 | 8 min read
Research image highlighting different brain regions.

X marks the spot in search for autism variants

Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.

By Holly Barker
16 January 2025 | 6 min read
Illustration of researchers talking to laypeople amidst strands of DNA.

Building an autism research registry: Q&A with Tony Charman

A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.

By Cathleen O’Grady
25 July 2024 | 8 min read
Neural progenitor cells in a culture medium, color-enhanced scanning electron micrograph (SEM).

Autism subgroups converge on cell growth pathway

Faulty mTOR signaling, implicated in syndromic forms of autism, also hinders cells grown from people with idiopathic autism or autism-linked deletions on chromosome 16.

By Angie Voyles Askham
2 April 2024 | 5 min listen

Genome structure could be key factor in some forms of autism

Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.

By Giorgia Guglielmi
28 March 2024 | 4 min read
A figure walks along a long road with a gene-sequence-like pattern.

How long-read sequencing will transform neuroscience

New technology that delivers much more than a simple DNA sequence could have a major impact on brain research, enabling researchers to study transcript diversity, imprinting and more.

By Tychele Turner
22 November 2023 | 7 min listen

Common genetic variants shape the structure of the cortex

A genome-wide association study lays a foundation for deeper investigation of these variants in neurodevelopmental conditions.

By Lauren Schenkman
18 September 2023 | 6 min listen
Research image of organoids in the forebrain.

Head size parts autism into two major subtypes

An imbalance in the number of excitatory neurons in early brain development may account for the difference.

By Charles Q. Choi
12 September 2023 | 4 min read
An illustration of Evodkia Anagnastou

Evdokia Anagnostou and the concept of a good life

The Holland Bloorview clinician and research director discusses how growing up on a small island shaped her career and the existential questions that keep her up at night.

By Brady Huggett
1 September 2023 | 77 min listen
Illustration of mitochondria as a kind of Stonehenge, with the shapes standing upright, casting shadows, against a blue sky.

Mitochondria mediate effects of PTEN mutations

Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.

By Katie Moisse
26 June 2023 | 4 min read

Explore more from The Transmitter

PTEN problems underscore autism connection to excess brain fluid

Damaging variants in the autism-linked gene cause congenital hydrocephalus—a buildup of cerebrospinal fluid in the brain—by turbocharging a downstream signaling pathway that promotes the growth of cells, according to a new study.

By Holly Barker
3 April 2025 | 4 min read

U.S. health agency purge includes 10 lab heads at National Institute of Neurological Disorders and Stroke

The reasons for selecting these researchers—who have led work on neuronal migration, dopamine receptors in neuronal signaling and the structure of ion channels, among other areas—remain unclear.

By Angie Voyles Askham, Sydney Wyatt
2 April 2025 | 5 min read

Five things to know if your federal grant is terminated

If you want to appeal the decision, know the rules that govern terminations, as well as the specific rationale given in your notice, science policy experts say.

By Calli McMurray
2 April 2025 | 7 min read