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Assessing performance of pathogenicity predictors using clinically relevant variant datasets
BACKGROUND: Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has not been undertaken. METHODS: We derive two validation datasets: an ‘open’ dataset containing vari...
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| Publicado no: | J Med Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8327323/ https://ncbi.nlm.nih.gov/pubmed/32843488 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107003 |
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