People with an extra copy of the autism-linked chromosomal region 16p11.2 have a range of characteristics, suggesting that other genetic factors are at play.
Spectrum: Autism Research News
Tag: genetic testing
The proposed guidelines would require scientists to destroy biological specimens if they don’t have the explicit consent of the participant for further use.
Two massive efforts to sequence the DNA of more than 11,000 people together provide the most detailed picture yet of genetic variation in the general population.
Combining two genetic tests with a physical exam may flag young children at risk for autism years earlier than behavioral assessments do.
A new tool that charts large DNA duplications and deletions in single cells may help researchers assess the variants’ contribution to autism.
A new computer program predicts the effects of mutations in regions of the genome that control gene expression. Researchers can use the tool, called DeepBind, to gauge whether autism-linked mutations might block the genetic landing strips for regulatory proteins.
For many parents, genetic testing for a child with autism can bring relief, support and sometimes a way forward.
A surprisingly large proportion of people with autism have complex chromosomal rearrangements that were missed by conventional genetic screening.
A new strategy sharpens the analysis of chemical tags on the DNA-protein complexes that regulate gene expression. The method may help researchers decipher how gene expression goes awry in disorders such as autism.