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American Society of Human Genetics 2018

ASHG 2018
Microscopic view of spermatozoa

Some autism mutations go undetected, new study suggests

by  /  5 December 2018
Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.
ASHG 2018

Massive sequencing project identifies new genetic syndromes

by  /  23 October 2018
The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.
ASHG 2018
Brain cells under magnification glow red, purple and blue.

Mini-brains may pin down key genes in large mutations

by  /  22 October 2018
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.
October 2018
A digital drawing shows two groups of people forming large arrows, see from above.
ASHG 2018

Mutation types tied to autism converge on shared set of genes

by  /  18 October 2018

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.

A boy toddler learns to walk with an adult holding his hands.
ASHG 2018

Some ‘autism genes’ show stronger ties to related conditions

by  /  17 October 2018

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.