A new software tool detects chromosomal alterations present in only a subset of cells in the body. This method, described 31 May in BMC Genomics, may help reveal mosaicism’s contribution to neurological disorders.
By combining bioinformatics techniques with an analysis of gene expression, researchers have identified 30 candidate genes for autism, according to a study published 28 May in Translational Psychiatry.
By merging genetic data from two large clinical repositories, from a total of more than 30,000 children, researchers have identified 18 copy number variants (CNVs) — DNA deletions or duplications — that play a role in autism. The findings appeared 9 October in Molecular Psychiatry.
By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.
Large-scale swapping of genetic material between chromosomes may play an important role in autism, according to a study published 27 April in Cell.
TBL1X, a gene located on the X chromosome, is associated with autism in males but not in females, according to a study published 3 November in Molecular Autism.
The nation’s largest database of autism research is about to get even bigger, thanks to a partnership between the National Database for Autism Research, a repository of data from 25,000 participants, and the Autism Genetic Research Exchange, a database of 2,500 families.