LAUSR

LEAP: Using machine learning to support variant classification in a clinical setting

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1 Published in 2020 at "Human Mutation"

DOI: 10.1002/humu.24011

Abstract: Advances in genome sequencing have led to a tremendous increase in the discovery of novel missense variants, but evidence for determining clinical significance can be limited or conflicting. Here, we present Learning from Evidence to… read more here.

Keywords: leap using; clinical setting; classification; machine learning ... See more keywords