The largest and most ambitious genome-sequencing project to date aims to identify rare variants and study their association to disease traits in 10,000 people.
Spectrum: Autism Research News
Tag: rare variants
Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.
Individuals with a duplication of a chromosomal region associated with autism and intellectual disability are at higher risk for low birth weight, restricted eating leading to extreme thinness, and smaller-than-average head size.
Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.
Some of the same genetic risk factors may underlie both autism and attention deficit hyperactivity disorder, according to a study published 10 August in Science Translational Medicine.
The first study to sequence more than 100 genes on the X chromosome in people with autism or schizophrenia has turned up some promising leads.