Article

PROTEORIZER: A holistic approach to untangle functional consequences of variants of unknown significance

2024-07-19

Abstract excerpt

Most in silico tools only use data closely related to the gene-of-interest or initial research question. This gene-focused research is prone to ignoring low-count and rare variants in the same or similar genes, even if available informational could be sufficient to deduce functional consequences by combining knowledge from many similar genes. Proteorizer is a web tool that aims to bridge the gap between protein-...

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Literature Corpus work: 37aa1599-5189-5c9d-a908-8aaa6563070c
DOI: 10.1101/2024.07.16.603688

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