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TITLE: "Splicing-specific transcriptome-wide association uncovers novel genetic mechanisms for Schizophrenia." ABSTRACT: Recent studies have highlighted the essential role of RNA splicing, a key mechanism of alternative RNA processing, in establishing connections between genetic variations and disease. Genetic loci influencing RNA splicing variations show considerable influence on complex traits, possibly surpassing those affecting total gene expression. Dysregulated RNA […]

TITLE: "TBD" Hosted by William Hsu for Medical Informatics

TITLE: "Defining molecular dysregulation in Down Syndrome neocortex and neural progenitor cells." ABSTRACT: Down syndrome (DS) is the most common form of genetic, intellectual disability, which occurs 1 in 700 newborns and presents in patients as cognitive deficits, particularly diminished in learning, memory, and language development.1,2,3 DS symptoms result from impaired cortical development, which is […]