Whole-genome sequencing

Recent articles

Research image of stem cells derived from people of African ancestry.

Bringing African ancestry into cellular neuroscience

Two independent teams in Africa are developing stem cell lines and organoids from local populations to explore neurodevelopmental and neurodegenerative conditions.

By Lauren Schenkman
14 January 2026 | 7 min read

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

Explore more from The Transmitter

Research image of lesion network mapping.

‘Overdue’ debate unfurls over neuroimaging method

After a January paper questioned the validity of an approach called lesion network mapping, its users are pressure testing their results.

By Angie Voyles Askham
17 April 2026 | 8 min read
Research image of zebrafish brain activity.

Nearly 400 compounds affect behaviors tied to autism-linked genes in zebrafish

Estropipate, paclitaxel and levocarnitine altered behaviors tied to SCN2A and DYRK1A variants specifically, a new open-source platform revealed.

By Charles Q. Choi
16 April 2026 | 4 min read
NINDS building.

What neuroscientists want from a new NINDS director

The search is underway for the next director of the U.S. National Institute of Neurological Disorders and Stroke, who will face a range of challenges, neuroscientists say, but will also have an “immense opportunity to do good things.”

By Helena Kudiabor
15 April 2026 | 4 min read