Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

BACKGROUND: Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can only be diagnosed by genetic testing, computational phenotypes identify patient cohorts for gen...

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Detalles Bibliográficos
Autores principales: Kothari, Cartik, Srivastava, Siddharth, Kousa, Youssef, Izem, Rima, Gierdalski, Marcin, Kim, Dongkyu, Good, Amy, Dies, Kira A., Geisel, Gregory, Morizono, Hiroki, Gallo, Vittorio, Pomeroy, Scott L., Garden, Gwenn A., Guay-Woodford, Lisa, Sahin, Mustafa, Avillach, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943944/
https://www.ncbi.nlm.nih.gov/pubmed/35321655
http://dx.doi.org/10.1186/s11689-022-09434-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943944/
https://www.ncbi.nlm.nih.gov/pubmed/35321655
http://dx.doi.org/10.1186/s11689-022-09434-0

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