Whole-genome sequencing

Recent articles

Cell ‘antennae’ link autism, congenital heart disease

Variants in genes tied to both conditions derail the formation of cilia, the tiny hair-like structure found on almost every cell in the body, a new study finds.

By Lauren Schenkman
24 July 2025 | 4 min listen
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

Explore more from The Transmitter

Meet the Autism Data Science Initiative grantees

The awarded projects plan to study gene-and-environment interactions in people, stem cells and organoids, as well as predictors of positive life outcomes in autistic youth and adults.

By Calli McMurray
3 October 2025 | 2 min read
Stack of papers.

Exclusive: The 23 studies the FDA based its expanded leucovorin label on

The studies include 46 people, mostly toddlers, who have cerebral folate deficiency due to variants in a folate transporter.

By Claudia López Lloreda
2 October 2025 | 6 min read
Hand holding a rubber stamp above a stack of papers.

Autism researchers ‘pleasantly surprised’ by list of NIH data project grantees, despite initial concerns

An atypical funding mechanism, truncated application timeline and opaque review process had generated concern over the quality of projects that would be selected for the Autism Data Science Initiative.

By Calli McMurray
2 October 2025 | 10 min read

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