Article

aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

2022-10-20

Abstract excerpt

The widespread use of high-throughput sequencing techniques is leading to a rapidly increasing number of disease-associated variants of unknown significance and candidate genes. Integration of knowledge concerning their genetic, protein as well as functional and conservational aspects is necessary for an exhaustive assessment of their relevance and for prioritization of further clinical and functional studies inve...

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Literature Corpus work: 476de72d-6d41-50d6-9a2b-6c8bce7625b7
DOI: 10.1101/2022.10.20.513018

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