Whole-genome sequencing
Recent articles
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.
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.
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.
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.
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.
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.
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.
Explore more from The Transmitter
Chris Rozell explains how brain stimulation and AI are helping to treat mental disorders
Rozell and his colleagues, using deep brain stimulation and explainable artificial intelligence, have developed tools to help people with treatment-resistant depression.
Chris Rozell explains how brain stimulation and AI are helping to treat mental disorders
Rozell and his colleagues, using deep brain stimulation and explainable artificial intelligence, have developed tools to help people with treatment-resistant depression.
This paper changed my life: Abigail Person on birdsong, feed-forward circuits and convergent computations
By isolating specific neuron types involved in zebra finch birdsong, this 2002 Nature paper from Michael Fee and colleagues revealed elegant neural mechanisms controlling the timing of natural learned behavior.
This paper changed my life: Abigail Person on birdsong, feed-forward circuits and convergent computations
By isolating specific neuron types involved in zebra finch birdsong, this 2002 Nature paper from Michael Fee and colleagues revealed elegant neural mechanisms controlling the timing of natural learned behavior.
Prosocial effects of oxytocin are state dependent; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 11 August.
Prosocial effects of oxytocin are state dependent; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 11 August.