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

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 Assess Pathogenicity (LEAP), a machine learning model that utilize...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: Lai, Carmen, Zimmer, Anjali D., O'Connor, Robert, Kim, Serra, Chan, Ray, van den Akker, Jeroen, Zhou, Alicia Y., Topper, Scott, Mishne, Gilad
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2020
Sujets:
Special Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7317941/
https://ncbi.nlm.nih.gov/pubmed/32176384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24011
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