Applying family analyses to electronic health records to facilitate genetic research.
Bioinformatics
; 34(4): 635-642, 2018 02 15.
Article
en En
| MEDLINE
| ID: mdl-28968884
ABSTRACT
Motivation Pedigree analysis is a longstanding and powerful approach to gain insight into the underlying genetic factors in human health, but identifying, recruiting and genotyping families can be difficult, time consuming and costly. Development of high throughput methods to identify families and foster downstream analyses are necessary. Results:
This paper describes simple methods that allowed us to identify 173 368 family pedigrees with high probability using basic demographic data available in most electronic health records (EHRs). We further developed and validate a novel statistical method that uses EHR data to identify families more likely to have a major genetic component to their diseases risk. Lastly, we showed that incorporating EHR-linked family data into genetic association testing may provide added power for genetic mapping without additional recruitment or genotyping. The totality of these results suggests that EHR-linked families can enable classical genetic analyses in a high-throughput manner. Availability and implementation Pseudocode is provided as supplementary information. Contact HEBBRING.SCOTT@marshfieldresearch.org. Supplementary information Supplementary data are available at Bioinformatics online.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
1_ASSA2030
Problema de salud:
1_sistemas_informacao_saude
Asunto principal:
Linaje
/
Genoma Humano
/
Investigación Genética
/
Registros Electrónicos de Salud
Tipo de estudio:
Prognostic_studies
Límite:
Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos