Rare variants
Recent articles
NeuroDev study maps previously unseen genetic variation in Africa
The project is helping to fill critical gaps in the genetic underpinnings of autism and other neurodevelopmental conditions.
NeuroDev study maps previously unseen genetic variation in Africa
The project is helping to fill critical gaps in the genetic underpinnings of autism and other neurodevelopmental conditions.
Revised statistical bar extracts less-common variants from autism genetics studies
Adjusting genetic analyses could help plug autism’s heritability gap, according to a new preprint.
Revised statistical bar extracts less-common variants from autism genetics studies
Adjusting genetic analyses could help plug autism’s heritability gap, according to a new preprint.
Common and rare variants shape distinct genetic architecture of autism in African Americans
Certain gene variants may have greater weight in determining autism likelihood for some populations, a new study shows.
Common and rare variants shape distinct genetic architecture of autism in African Americans
Certain gene variants may have greater weight in determining autism likelihood for some populations, a new study shows.
Sequencing study spotlights tight web of genes tied to autism
The findings, shared in a preprint, help to illuminate how a large and heterogeneous group of genes could be involved in autism.
Sequencing study spotlights tight web of genes tied to autism
The findings, shared in a preprint, help to illuminate how a large and heterogeneous group of genes could be involved in autism.
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.
Many autism-linked proteins influence hair-like cilia on human brain cells
The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.
Many autism-linked proteins influence hair-like cilia on human brain cells
The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.
Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes
People belonging to the same subtype share genetic variants, behaviors and often co-occurring diagnoses, according to a new preprint.
Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes
People belonging to the same subtype share genetic variants, behaviors and often co-occurring diagnoses, according to a new preprint.
A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman
A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.
A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman
A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.
Giant analysis reveals how autism-linked genes affect brain cell types
Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.
Giant analysis reveals how autism-linked genes affect brain cell types
Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.
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.
Explore more from The Transmitter
Links between tuberous sclerosis complex and autism, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 17 August.
Links between tuberous sclerosis complex and autism, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 17 August.
The fun and flexibility of data science
Taylor Bolt spent his Ph.D. and postdoc digging through brain imaging data for clues to cognition. In industry, the datasets are different but the joy of answering questions with data remains.
The fun and flexibility of data science
Taylor Bolt spent his Ph.D. and postdoc digging through brain imaging data for clues to cognition. In industry, the datasets are different but the joy of answering questions with data remains.
Mind over metrics: How can we tell if two brains (or AI models) are alike?
The ability to record from large populations of neurons has triggered the development of myriad methods for comparing them. But we’re still grappling with how to convert measures of likeness into a better mechanistic understanding.
Mind over metrics: How can we tell if two brains (or AI models) are alike?
The ability to record from large populations of neurons has triggered the development of myriad methods for comparing them. But we’re still grappling with how to convert measures of likeness into a better mechanistic understanding.