Whole-genome sequencing
Recent articles
Machine-learning model spots autism-linked variants that scramble splicing
The model provides a way to investigate genetic variation in regions of the genome whose functions have been difficult to interpret.
Machine-learning model spots autism-linked variants that scramble splicing
The model provides a way to investigate genetic variation in regions of the genome whose functions have been difficult to interpret.
Bringing African ancestry into cellular neuroscience
Two independent teams in Africa are developing stem cell lines and organoids from local populations to explore neurodevelopmental and neurodegenerative conditions.
Bringing African ancestry into cellular neuroscience
Two independent teams in Africa are developing stem cell lines and organoids from local populations to explore neurodevelopmental and neurodegenerative conditions.
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.
Explore more from The Transmitter
New phase of BRAIN Initiative spawns basal ganglia ‘parts list’
With a standardized cell naming system and infrastructure for data collection and analysis, the basal ganglia project sets the stage for a whole-brain primate atlas.
New phase of BRAIN Initiative spawns basal ganglia ‘parts list’
With a standardized cell naming system and infrastructure for data collection and analysis, the basal ganglia project sets the stage for a whole-brain primate atlas.
Future of AI brain models sparks debate
Neuroscientists are divided about whether foundation models that predict brain responses will help the field understand how brains work.
Future of AI brain models sparks debate
Neuroscientists are divided about whether foundation models that predict brain responses will help the field understand how brains work.
Language development during the first 1,000 days; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 9 November.
Language development during the first 1,000 days; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 9 November.