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
Infant Brain Imaging Study findings, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 23 March.
Infant Brain Imaging Study findings, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 23 March.
Trading places: What happens when neuroscience turns into machine learning, and machine learning turns into neuroscience?
Neuroscience has become increasingly concerned with prediction, and machine learning with causal explanation, with each field adopting methods from the other. I asked eight experts to weigh in on what we stand to learn from this exchange.
Trading places: What happens when neuroscience turns into machine learning, and machine learning turns into neuroscience?
Neuroscience has become increasingly concerned with prediction, and machine learning with causal explanation, with each field adopting methods from the other. I asked eight experts to weigh in on what we stand to learn from this exchange.
Exon-skipping approach boosts levels of key Rett syndrome protein
Deleting a small region of the MECP2 gene partially restored function in neurons derived from people with Rett-associated variants.
Exon-skipping approach boosts levels of key Rett syndrome protein
Deleting a small region of the MECP2 gene partially restored function in neurons derived from people with Rett-associated variants.