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.
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What can AI teach us about ‘emotions’?
Exploring why Anthropic’s AI, Claude, displays something like emotion could ultimately help us better understand the function that emotions serve in humans.
What can AI teach us about ‘emotions’?
Exploring why Anthropic’s AI, Claude, displays something like emotion could ultimately help us better understand the function that emotions serve in humans.
Argentine protesters condemn science funding shortfall
Demonstrators across the country called for the government to increase public university salaries and funding for scientific research.
Argentine protesters condemn science funding shortfall
Demonstrators across the country called for the government to increase public university salaries and funding for scientific research.
This paper changed my life: Appreciating John Hopfield’s brilliant neural network
In a 1982 paper, the Nobel laureate created his namesake recurrent neural network—work that taught Maria Geffen to always ground research questions in biology.
This paper changed my life: Appreciating John Hopfield’s brilliant neural network
In a 1982 paper, the Nobel laureate created his namesake recurrent neural network—work that taught Maria Geffen to always ground research questions in biology.