BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements
Ruizhi Deng,
Elena Perenthaler,
Anita Nikoncuk
et al.
Abstract:Genome-wide assessment of genetic variation is becoming a routine in human genetics, but functional interpretation of non-coding variants both in common and rare diseases remains extremely challenging. Here we employed the massively parallel reporter assay ChIP-STARR-seq to functionally annotate activity of >140 thousand non-coding regulatory elements (NCREs) in human neural stem cells (NSCs) as a model for early brain development. Highly active NCREs show an increasing sequence constraint and harbourde nov… Show more
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