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
Large-scale neuroimaging datasets often lack information specific to women’s health, constraining AI’s analysis potential
Addressing this gap will require collecting widespread data on pregnancy, menopause and other life events women experience—and could bring us closer to the “holy grail” of linking brain and behavior.
Large-scale neuroimaging datasets often lack information specific to women’s health, constraining AI’s analysis potential
Addressing this gap will require collecting widespread data on pregnancy, menopause and other life events women experience—and could bring us closer to the “holy grail” of linking brain and behavior.
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.
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.