From SPARK to insight: visual data portals and AI multimodal foundation model integration of autism sequencing datasets
Genetics
SHAReD – SFARI Heterogeneity in Autism — Reanalysis of data
Systematic analysis of the complete mutational spectrum of structural variation associated with autism and a continuum of developmental disorders from short-read and long-read genome sequencing
Elucidating the role of rare variants in genetic architecture of autism and genetic diagnosis through the lens of natural selection
Investigating genetic burden between autistic individuals and their siblings
Harnessing new discoveries in infant genetics to deliver innovations in understanding autism
How does common polygenic variation create risk for autism?
Modeling the gene regualtory effects of structural variants in autism
Trisomy rescues and mosaic chromosomal alterations in autism spectrum disorder
Functionally informed model for de novo coding mutations in autism
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