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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Dettagli Bibliografici
Pubblicato in:J Med Genet
Autori principali: Gunning, Adam C, Fryer, Verity, Fasham, James, Crosby, Andrew H, Ellard, Sian, Baple, Emma L, Wright, Caroline F
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2021
Soggetti:
Diagnostics
Accesso online: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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