ASHG 2018

Microscopic view of spermatozoa

Some autism mutations go undetected, new study suggests

Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.

By Jessica Wright
5 December 2018 | 5 min read

Massive sequencing project identifies new genetic syndromes

The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.

By Jessica Wright
23 October 2018 | 3 min read
Brain cells under magnification glow red, purple and blue.

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.

By Jessica Wright
22 October 2018 | 3 min read
A digital drawing shows two groups of people forming large arrows, see from above.

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.

By Jessica Wright
18 October 2018 | 3 min read
A boy toddler learns to walk with an adult holding his hands.

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.

By Jessica Wright
17 October 2018 | 3 min read

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Persistent protein pairing enables memories to last

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A digitally distorted image of a file folder against a blue gradient background.

Data access changes to UK Biobank stir unease in neuroscientists

“I feel a little bit in limbo,” says neuroscientist Stephanie Noble, who has paused a study using Biobank data after the repository shifted from a data download to a cloud-only access model.

By Calli McMurray
16 July 2024 | 7 min read