Rare Variation in Noncoding Regions with Evolutionary Signatures Contributes to Autism Spectrum Disorder Risk

Taehwan Shin,Janet H. T. Song,Michael Kosicki,Connor Kenny,Samantha G. Beck,Lily Kelley,Irene Antony,Xuyu Qian, Julieta Bonacina, Frances Papandile,Dilenny Gonzalez,Julia Scotellaro, Evan M. Bushinsky,Rebecca E. Andersen,Eduardo Maury,Len A. Pennacchio,Ryan N. Doan,Christopher A. Walsh

CELL GENOMICS（2024）

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autism spectrum disorder,noncoding regions,human accelerated regions,VISTA enhancers,conserved neural enhancers,caMPRA,consanguineous families,IL1RAPL1,OTX1,SIM1

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