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Keyword: variant interpretation ×Clear all

1 claim from 1 paper

1. Biochemistry, Genetics and Molecular Biology › Genomics and Rare Diseases

   Disease variant prediction with deep generative models of evolutionary data

   Frazer, Notin, Dias et al. · Nature · 2021

   The authors built EVE, a generative model of evolutionary sequence variation, to predict whether protein variants cause disease without using labels, and applied it to over 36 million variants.

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   1. UncheckedThe EVE model, trained without disease labels, is reported to beat label-trained prediction tools and match or beat high-throughput lab experiments.“Our model EVE (evolutionary model of variant effect) not only outperforms computational approaches that rely on labelled data but also performs on par with, if not better than, predictions from high-throughput experiments, which are increasingly used as evidence for variant classification 12-16 .”