Article

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

2023-12-27

Abstract excerpt

<h4>ABSTRACT</h4> Unsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification, and gene expression assays to discover cranial motor neuron (cMN) cis -regulatory elements and subsequently nominate candidate non-coding variants in the co...

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Literature Corpus work: 3b7f8876-6017-5e30-8bc6-557a33b87ea9
DOI: 10.1101/2023.12.22.23300468

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