Whole-genome sequencing
Recent articles
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
A mix of common and rare variants shapes autism inheritance patterns
The study also reveals a link between language development and common variants.
A mix of common and rare variants shapes autism inheritance patterns
The study also reveals a link between language development and common variants.
Explore more from The Transmitter
Neuroscientists reeling from past cuts advocate for more BRAIN Initiative funding
The director of the U.S. National Institutes of Health calls BRAIN a “high priority” but acknowledges that difficult decisions lie ahead if federal budgets remain flat.
Neuroscientists reeling from past cuts advocate for more BRAIN Initiative funding
The director of the U.S. National Institutes of Health calls BRAIN a “high priority” but acknowledges that difficult decisions lie ahead if federal budgets remain flat.
‘Huge influx’ of neuroscientists migrates to Bluesky
Daily neuroscience-related posts on the social-media platform this week have increased more than 400 percent, on average, compared with October.
‘Huge influx’ of neuroscientists migrates to Bluesky
Daily neuroscience-related posts on the social-media platform this week have increased more than 400 percent, on average, compared with October.
Autism prevalence increasing in children, adults, according to electronic medical records
The uptick from 2011 to 2022 in the United States underscores a need for more services and research, the investigators say.
Autism prevalence increasing in children, adults, according to electronic medical records
The uptick from 2011 to 2022 in the United States underscores a need for more services and research, the investigators say.