A new method for labeling cell lines and checking their quality could improve the validity of study results.

A panel of genes expressed in blood may identify toddlers who will later be diagnosed with autism.

The genetic makeup of an individual plays much a bigger role than environmental factors in whether he or she develops autism, according to one of the largest twin studies to date.

Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.

A new tool helps predict whether large DNA duplications and deletions, common among people with autism, are harmful or benign.
 

Combining analysis of large deletions or duplications in the genome with sequences from protein-coding regions can identify new syndromes, as well as the mutations that cause those disorders, according to a report published 14 September in Nature Genetics.

Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
 

A new algorithm accurately detects large DNA insertions and deletions in the protein-coding regions of the genome.

A teenage girl with Rett syndrome has a mutation in WFR45, a gene that is mutated in people who abruptly lose motor and mental skills in adulthood, according to a study published 13 March in the Journal of Human Genetics.