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Connecting phenotype to genotype: PheWAS-inspired analysis of autism spectrum disorder

12 Oct 2022

Abstract excerpt

Autism Spectrum Disorder (ASD) is extremely heterogeneous clinically and genetically. There is a pressing need for a better understanding of the heterogeneity of ASD based on scientifically rigorous approaches centered on systematic evaluation of the clinical and research utility of both phenotype and genotype markers. This paper presents a holistic PheWAS-inspired method to identify meaningful associations...

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PMID: 36310845
DOI: 10.3389/fnhum.2022.960991

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