Rare variants
Recent articles
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.
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.
Explore more from The Transmitter
Remembering Annette Dolphin, who helped explain gabapentin’s effects
The "intuitive" neuropharmacologist pushed against the status quo.
Remembering Annette Dolphin, who helped explain gabapentin’s effects
The "intuitive" neuropharmacologist pushed against the status quo.
Tom Griffiths describes how neural networks, logic and probability theory together explain cognition
In his new book, “The Laws of Thought,” Griffiths shows how these three pillars of study complement one another and together form a solid foundation to eventually explain all of our cognition, from brain to mind.
Tom Griffiths describes how neural networks, logic and probability theory together explain cognition
In his new book, “The Laws of Thought,” Griffiths shows how these three pillars of study complement one another and together form a solid foundation to eventually explain all of our cognition, from brain to mind.
This paper changed my life: Talia Lerner reflects on dopamine neuron diversity and the value of simple experiments
In a 2011 Neuron study, Stephan Lammel and his colleagues showed that dopamine neurons with different projections have different physiological properties. The work inspired Lerner to think about how to challenge widely held assumptions in the field.
This paper changed my life: Talia Lerner reflects on dopamine neuron diversity and the value of simple experiments
In a 2011 Neuron study, Stephan Lammel and his colleagues showed that dopamine neurons with different projections have different physiological properties. The work inspired Lerner to think about how to challenge widely held assumptions in the field.