Article

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

2020-12-07

Abstract excerpt

<h4>ABSTRACT</h4> Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually scouring through a multitude of independent databases, often with the aid of several and mostly independent computational tools. To streamline the variant interpretation process, we developed GeneTerpret platform that collates data from current interpretation tools...

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Literature Corpus work: 056cdae4-194b-5265-a46f-8f888c1145b3
DOI: 10.1101/2020.12.04.408336

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