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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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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | 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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