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 | 7 min listen
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

Illustration of a shrew, sandpiper, locust, axolotl, monarch butterfly, African killifish, naked mole rat, octopus, bat and cichlid.

The non-model organism “renaissance” has arrived

Meet 10 neuroscientists bringing model diversity back with the funky animals they study.

Assembloids illuminate circuit-level changes linked to autism, neurodevelopment

These complex combinations of organoids afford a closer look at how gene alterations affect certain brain networks.

By Sarah DeWeerdt
19 December 2024 | 0 min watch
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Rajesh Rao reflects on predictive brains, neural interfaces and the future of human intelligence

Twenty-five years ago, Rajesh Rao proposed a seminal theory of how brains could implement predictive coding for perception. His modern version zeroes in on actions.

By Paul Middlebrooks
18 December 2024 | 97 min listen