Article

AmazonForest: In-silico Meta-Prediction of Pathogenic Variants

2020-11-19

Abstract excerpt

ClinVar is a web platform that stores around 774k curated entries, which allows exploring genetic variants and their associations with complex phenotypes. A partial set of ClinVar’s genetic associations were reported with conflict of interpretation or uncertain clinical impact significance, which currently challenges clinicians and geneticists. Here, we evaluate the performance of data pre-processing methods...

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Literature Corpus work: 32d7ffbf-384b-5e10-b00b-b71f24d0c5ee
DOI: 10.20944/preprints202011.0519.v1

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