Genome-wide patterns of de novo tandem repeat mutations and their contribution to autism spectrum disorders.
Ileena Mitra, Bonnie Huang, Nima Mousavi, Nichole Ma, Michael Lamkin, Richard Yanicky, Sharona Shleizer-Burko, Kirk E. Lohmueller, Melissa Gymrek
This study identifies de novo tandem repeat mutations in ASD probands and shows they are more prevalent, larger, and evolutionarily deleterious compared to unaffected siblings.
bioRxiv · Mar 4, 2020 · PreprintGenomics