Whole-genome sequencing

Recent articles

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).
Spectrum Microphone

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 | 4 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 | 6 min listen
Brain imaging Microphone

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 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
Synaptic Microphone

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
Illustration of mitochondria as a kind of Stonehenge, with the shapes standing upright, casting shadows, against a blue sky.
Spectrum Microphone

Mitochondria mediate effects of PTEN mutations

Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.

By Katie Moisse
26 June 2023 | 4 min read
Illustration of hybrid objects: part light bulb, part lab vial, some in blue and some in red to signify null and replicated results.

Null and Noteworthy: Modified MRI; father findings

This month’s newsletter tackles null findings from an attempted replication of a “revolutionary” MRI approach and an analysis of family genetics.

By Emily Harris
22 June 2023 | 4 min read
Photograph of a parent crossing a city street with two children
Spectrum Microphone

A mix of common and rare variants shapes autism inheritance patterns

The study also reveals a link between language development and common variants.

By Katharine Gammon
4 November 2022 | 3 min read

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Brain Inspired Microphone

Kim Stachenfeld on the dance between neuroscience and artificial intelligence

As a researcher at both Google DeepMind and Columbia University, Stachenfeld offers cross-disciplinary insight into how to understand the brain.

By Paul Middlebrooks
11 September 2024 | 92 min listen
World map displaying an analysis of years of life lost to suicide among autistic people in 2021.

PPP2R5D gene; social-communication intervention in infants; autism and suicide

Here is a roundup of autism-related news and research spotted around the web for the week of 9 September.

By Jill Adams
10 September 2024 | 2 min read
Illustration with panels depicting two people working together at a computer and a high-five, and a lone researcher in the foreground, looking up.

Should I work with these people? A guide to collaboration

Kevin Bender offers advice for early-career neuroscientists on how to choose the right collaborations and avoid the bad ones.

By Kevin Bender
10 September 2024 | 7 min read