Researchers have identified the genetic root of severe mitochondrial disorders in infants whose cases couldn’t be solved by standard genetic testing, according to research published last week in Science Translational Medicine.

The rise of whole-genome sequencing is likely to result in a deluge of lawsuits against doctors for misinterpreting disease risks, two lawyers caution in an essay in Slate.

In October, the autism science and advocacy organization Autism Speaks announced its plans to sequence whole genomes of 10,000 children with the disorder and their family members over the next two years.

By focusing on recessive mutations inherited from both parents, researchers have identified 50 new candidate genes for intellectual disability.

Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.

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more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.

Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.

A new analysis of children with autism and their unaffected parents provides the best evidence to date that mutations in multiple genes may work together to cause autism and related disorders.

Sequencing the exomes — regions of the genome that code for proteins — of 18 individuals with autism has revealed new candidate genes for the disorder, researchers reported Sunday at the Society for Neuroscience annual meeting in San Diego.