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
Gene replacement therapy normalizes some traits in SYNGAP1 model mice
The first published virus-based gene therapy for SYNGAP1 deletion yields benefits despite the gene’s long length and complexity.
Gene replacement therapy normalizes some traits in SYNGAP1 model mice
The first published virus-based gene therapy for SYNGAP1 deletion yields benefits despite the gene’s long length and complexity.
Does AI understand what it produces? Henk de Regt explores how we might assess understanding in machines and humans
Building on his philosophy of how scientists understand what they work on, de Regt is extending his approach to test understanding in machines.
Does AI understand what it produces? Henk de Regt explores how we might assess understanding in machines and humans
Building on his philosophy of how scientists understand what they work on, de Regt is extending his approach to test understanding in machines.
Role of maternal factors in autism; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 17 November.
Role of maternal factors in autism; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 17 November.