Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.
Spectrum: Autism Research News
Tag: rare variants
A new statistical method for linking genes to a disorder analyzes both rare and common variants of a gene at the same time, according to a study published 14 May in the American Journal of Human Genetics. This makes it possible to confirm associations that other techniques might overlook.
Children with autism have more copies of some chromosomal regions than controls do, according to a study published 19 April in Human Molecular Genetics. This is true even after excluding the regions that are the most likely to lead to autism.
Some Chinese individuals with autism have rare mutations that may disrupt the production of melatonin, the hormone that regulates sleep, according to a study published 17 January in PLoS One.
Rare, inherited mutations contribute to a significant proportion of autism cases, helping to explain the heritability of the disorder, according to two new studies published today in Neuron.
The genome appears to be littered with so-called ‘hotspots,’ areas that are prone to single-letter mutations, according to research published 21 December in Cell.