Whole-exome sequencing

Recent articles

Image of scientists working in a lab.

African genetics study NeuroDev shares initial findings

The most comprehensive study of neurodevelopmental conditions in Kenya and South Africa ever conducted shares preliminary results and lessons.

By Maaisha Osman
15 March 2023 | 8 min read
Illustration of an X chromosome against a black background.

X-chromosome variants help explain autism’s sex bias

The rare variants are also linked to ADHD and Tourette syndrome, two other conditions that disproportionately affect boys and men.

By Charles Q. Choi
24 October 2022 | 4 min read
Conceptual illustration of a DNA double helix

Scans of sundry variant types uncover autism-linked genes

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

By Chloe Williams
18 August 2022 | 7 min read
A family of Macaques aat the Yerkes National Primate Research Center Field Station, Lawrenceville, Georgia.

Macaques’ social skills tied to variation in autism-linked genes

Genetics strongly influences some aspects of the monkey’s social behavior, including tendencies to solicit grooming and sit or play alone.

By Chloe Williams
7 March 2022 | 5 min read
Young patient speaking to counselor.

Q&A with Brenda Finucane: Building pipelines for genetic tests for autism

Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.

By Angie Voyles Askham
17 August 2021 | 6 min read
DNA helix inside the human body

Autism genetics, explained

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

By Nicholette Zeliadt
28 May 2021 | 5 min read

Genes tied to autism, developmental delay, schizophrenia share functions

Many genes linked to autism, schizophrenia and neurodevelopmental delay regulate gene expression and support communication between neurons.

By Laura Dattaro
7 May 2021 | 3 min read
Computer screenshot showing bands of colour resulting from sequenced DNA.

Largest autism genetics analysis to date uncovers more high-confidence candidates

The largest-yet study of genetic data from autistic people has identified 255 genes associated with the condition.

By Laura Dattaro
6 May 2021 | 3 min read
Brain made of DNA strands on a background of molecule shapes

There are no autism-specific genes, just brain genes

There is not yet a single example of a gene that, when mutated, increases the likelihood of autism but not of other neurodevelopmental conditions, including intellectual disability.

By David Ledbetter, Scott Myers
23 March 2021 | 5 min read
Paper DNA with one torn base to signify a point mutation.

Analysis links 98 genes to neurodevelopmental conditions

Genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability reveal strong ties to 98 genes.

By Peter Hess
10 December 2020 | 4 min read

Explore more from The Transmitter

Does AI understand what it produces? Henk de Regt explores how we might assess understanding in machines and humans

Building on his philosophy of how scientists understand what they work on, de Regt is extending his approach to test understanding in machines.

By Paul Middlebrooks
19 November 2025 | 1 min read
Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Role of maternal factors in autism; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 17 November.

By Jill Adams
18 November 2025 | 2 min read
complex stack of rectangular prisms.

Neurophysiology data-sharing system faces funding cliff

After the primary grant supporting Neurodata Without Borders ends in March 2026, the platform may no longer be maintained or kept up to date.

By Lauren Schneider
17 November 2025 | 5 min read

privacy consent banner

Privacy Preference

We use cookies to provide you with the best online experience. By clicking “Accept All,” you help us understand how our site is used and enhance its performance. You can change your choice at any time. To learn more, please visit our Privacy Policy.