Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder

• Published in: Pharmaceuticals (Basel, Switzerland) Vol. 15; no. 2; p. 158
• Main Authors: Almandil, Noor B., AlSulaiman, Abdulla, Aldakeel, Sumayh A., Alkuroud, Deem N., Aljofi, Halah Egal, Alzahrani, Safah, Al-mana, Aishah, Alfuraih, Asma A., Alabdali, Majed, Alkhamis, Fahd A., AbdulAzeez, Sayed, Borgio, J. Francis
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 27.01.2022; MDPI
• Subjects: Alzheimer's disease; Autism; autism spectrum disorder; Biomarkers; Gene expression; Haplotypes; Kinases; Metabolism; neurodevelopmental disorder; Ontology; Proteins; regulatory variants; RNA sequencing; SNPs; RNA sequencing; SNPs; autism spectrum disorder; neurodevelopmental disorder; gene expression; regulatory variants

Autism is a complex disease with genetic predisposition factors. Real factors for treatment and early diagnosis are yet to be defined. This study integrated transcriptome and exome genotyping for identifying functional variants associated with autism spectrum disorder and their impact on gene expres...