Publications by authors named "M J Szego"
Article Synopsis
- Full understanding of autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS), highlighted by the latest Autism Speaks MSSNG resource that includes data from over 11,000 individuals.
- The study found ASD-associated rare genetic variants in about 14% of individuals with ASD, examining data from MSSNG and the Simons Simplex Collection, which suggests similar prevalence in both datasets.
- The identified variants were mostly nuclear (98%) with a small fraction being mitochondrial, and the research aims to help explore genetic links to ASD traits and identify causes for the 85% of ASD cases that currently lack identified genetic causes.
Children with rare and common diseases now undergo whole genome sequencing (WGS) in clinical and research contexts. Parents sometimes request access to their child's raw genomic data, to pursue their own analyses or for onward sharing with health professionals and researchers. These requests raise legal, ethical, and practical issues for professionals and parents alike.
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