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Genomic architecture of autism from comprehensive whole-genome sequence annotation

B. Trost,B. Thiruvahindrapuram,101 Authors,S. Scherer

2022 · DOI: 10.1016/j.cell.2022.10.009
Cell · 165 Citations

TLDR

This study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic.