Pangenomic approaches to the genetics of autism, and extra
Family affairs: In a new paper, researchers compared the genomes of 189 people from 51 families to search for genetic variation linked to autism. Using phased genome assemblies to generate long-read sequencing data, the investigators identified three likely variants: TBL1XR1, MECP2 and SYNGAP1. They also pinpoint several de novo candidates and inherited homozygous structural variants that conventional short-read sequencing had missed, which, the authors suggest, shows that their methodology can yield new insights into the genetics of autism.
Autism research spotted this week:
- “Convergent thyroid-ATPase interactions regulate collective behavior in Danionella” Cell Reports
