Article

PIVOTAL: Prioritizing variants of uncertain significance with spatial genomic patterns in the 3D proteome

2020-06-05

Abstract excerpt

<h4>ABSTRACT</h4> Variants of uncertain significance (VUS) have posed an increasingly prominent challenge to clinicians due to their growing numbers and difficulties in making clinical responses to them. Currently there are no existing methods that leverage the spatial relationship of known disease mutations and genomic properties for prioritizing variants of uncertain significance. More importantly, disease gene...

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Literature Corpus work: 8bae979d-c466-5c4c-897e-5ba4f476c010
DOI: 10.1101/2020.06.04.135103

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