Structural Variants Are a Major Component of the Missing Heritability of Autism Spectrum Disorder
David Kainer, Alan R. Templeton, Erica Teixeira Prates, Euan R.O. Allan, Sharlee Climer, Daniel Jacobson, Michael R. Garvin
The paper identifies structural variants (SVs) in ASD families and links them to molecular pathways and genes associated with non-verbal ASD, using explainable AI for subgroup identification.
medRxiv · Oct 10, 2021 · PreprintGenetic & Genomic Medicine