Article

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

2024-04-16

Abstract excerpt

Genome-wide assessment of genetic variation is becoming 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 the activity of >145 thousand non-coding regulatory elements (NCREs) in human neural stem cells, modelling early brain d...

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Literature Corpus work: 3804577e-e6e0-5e7a-8bb8-5ca205a168a1
DOI: 10.1101/2024.04.13.24305761

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