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 | 0 min watch
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 read

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 | 6 min read

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 | 5 min read
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

Psilocybin rewires specific mouse cortical networks in lasting ways

Neuronal activity induced by the psychedelic drug strengthens inputs from sensory brain areas and weakens cortico-cortical recurrent loops.

By Siddhant Pusdekar
5 December 2025 | 0 min watch

Home makeover helps rats better express themselves: Q&A with Raven Hickson and Peter Kind

The “Habitat”—a complex environment with space for large social groups—expands the behavioral repertoire of rodent models, Hickson and Kind say.

By Holly Barker
4 December 2025 | 0 min watch

Tatiana Engel explains how to connect high-dimensional neural circuitry with low-dimensional cognitive functions

Neuroscientists have long sought to understand the relationship between structure and function in the vast connectivity and activity patterns in the brain. Engel discusses her modeling approach to discovering the hidden patterns that connect the two.

By Paul Middlebrooks
3 December 2025 | 1 min read

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