Disease Heritability Inferred from Familial Relationships Reported in Medical Records

التفاصيل البيبلوغرافية
العنوان: Disease Heritability Inferred from Familial Relationships Reported in Medical Records
المؤلفون: Alexandre Yahi, Rami Vanguri, Eimear E. Kenny, Mark M. Shervey, Li Li, Krzysztof Kiryluk, Tal Lorberbaum, George Hripcsak, Joel T. Dudley, Gillian M. Belbin, Iuliana Ionita-Laza, Mary Simmerling, Fernanda Polubriaginof, Nicholas P. Tatonetti, Victor Nwankwo, David K. Vawdrey, Patricia Glowe, David Goldstein, Kayla M. Quinnies, Hojjat Salmasian, Suzanne Bakken
المصدر: Cell. 173:1692-1704.e11
بيانات النشر: Elsevier BV, 2018.
سنة النشر: 2018
مصطلحات موضوعية: 0301 basic medicine, Databases, Factual, Genotype, Patient privacy, Disease, Biology, Health records, Article, Medical Records, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Quantitative Trait, Heritable, health services administration, Electronic Health Records, Humans, Genetic Testing, Family history, Clinical phenotype, health care economics and organizations, Models, Genetic, Medical record, Genetic Diseases, Inborn, Heritability, Pedigree, Patient recruitment, Phenotype, 030104 developmental biology, Family Relations, Algorithms, Demography
الوصف: Heritability is essential for understanding the biological causes of disease but requires laborious patient recruitment and phenotype ascertainment. Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. EHRs contain next-of-kin information collected via patient emergency contact forms, but until now, these data have gone unused in research. We mined emergency contact data at three academic medical centers and identified 7.4 million familial relationships while maintaining patient privacy. Identified relationships were consistent with genetically derived relatedness. We used EHR data to compute heritability estimates for 500 disease phenotypes. Overall, estimates were consistent with the literature and between sites. Inconsistencies were indicative of limitations and opportunities unique to EHR research. These analyses provide a validation of the use of EHRs for genetics and disease research.
تدمد: 0092-8674
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aafa1323fc041fd63d00b71e3446ba3
https://doi.org/10.1016/j.cell.2018.04.032
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....7aafa1323fc041fd63d00b71e3446ba3
قاعدة البيانات: OpenAIRE