ASHG 2018
Recent articles
Some autism mutations go undetected, new study suggests
Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.
Some autism mutations go undetected, new study suggests
Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.
Massive sequencing project identifies new genetic syndromes
The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.
Massive sequencing project identifies new genetic syndromes
The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.
Mini-brains may pin down key genes in large mutations
Clusters of brain cells — so-called 'mini-brains' grown in the lab — may help researchers understand how large stretches of duplicated or deleted DNA affect the brain.
Mini-brains may pin down key genes in large mutations
Clusters of brain cells — so-called 'mini-brains' grown in the lab — may help researchers understand how large stretches of duplicated or deleted DNA affect the brain.
Mutation types tied to autism converge on shared set of genes
Genes linked to autism in sequencing studies tend be located in long stretches of DNA that are duplicated or missing in some people with developmental conditions.
Mutation types tied to autism converge on shared set of genes
Genes linked to autism in sequencing studies tend be located in long stretches of DNA that are duplicated or missing in some people with developmental conditions.
Some ‘autism genes’ show stronger ties to related conditions
The largest autism sequencing study to date implicates 99 genes in the condition — but nearly half have a tighter link to intellectual disability or developmental delay.
Some ‘autism genes’ show stronger ties to related conditions
The largest autism sequencing study to date implicates 99 genes in the condition — but nearly half have a tighter link to intellectual disability or developmental delay.
Explore more from The Transmitter
Autism-linked genes alter sleep behavior, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 13 April.
Autism-linked genes alter sleep behavior, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 13 April.
This paper changed my life: Erin Calipari ponders the nuances of rewarding and aversive stimuli
A 1960s study by Kelleher and Morse found that lever pressing in squirrel monkeys depended not on whether they received a reward or shock, but on the rules of the task. This taught Calipari to think deeply about factors that influence how behavior is generated and maintained.
This paper changed my life: Erin Calipari ponders the nuances of rewarding and aversive stimuli
A 1960s study by Kelleher and Morse found that lever pressing in squirrel monkeys depended not on whether they received a reward or shock, but on the rules of the task. This taught Calipari to think deeply about factors that influence how behavior is generated and maintained.
Why neural foundation models work, and what they might—and might not—teach us about the brain
These models can partly generalize across species, brain regions and tasks, suggesting that a set of machine-learnable rules govern neural population activity. But will we be able to understand them?
Why neural foundation models work, and what they might—and might not—teach us about the brain
These models can partly generalize across species, brain regions and tasks, suggesting that a set of machine-learnable rules govern neural population activity. But will we be able to understand them?