Familial relationships in electronic health records (EHR) v2
Abstract
Heritability is an important statistic for evaluating genetic contribution to phenotypes. Estimating heritability, however, requires a laborious recruitment of a large number of relatives. Electronic health records (EHR) contain massive relative information in emergency contact forms. Recently, we presented RIFTEHR, an algorithm for extracting relationships from EHR. Here, we present an updated version and reconstructed 4.2 million familial relationships from the latest New York-Presbyterian/Columbia University Irving Medical Center (CUIMC) EHR system. The number of updated relationships is 30 percent more than the last version. We present a new implementation of RIFTEHR, which runs in linear time, thus largely improves the speed of the algorithm. We also present a data encryption method, to protect patient privacy in running the algorithm. These resources can be used for generalized use of familial relationships from EHR in genetic studies.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 0
- Assay
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Estimate of disease heritability using 7.4 million familial relationships inferred from electronic health records
Fernanda C. G. Polubriaginof, Rami Sesha Vanguri, … Nicholas P. Tatonetti·bioRxiv·May 24, 2017
- Identifying Family Structures from Obituaries and Matching them to Patients in an Electronic Heath Record.
John G. Mayer, Brooke Ellen Delgoffe, Scott Joseph Hebbring·Journal of the American Medical Informatics AssociationPeer-reviewed·Jun 6, 2025
- Learning lifetime disease liability reveals and removes genetic confounding in electronic health records
Yazheng Di, Na Cai·medRxiv·Feb 22, 2026
- Analyzing the heterogeneity of rule-based EHR phenotyping algorithms in CALIBER and the UK Biobank
Spiros Denaxas, Helen Parkinson, … Harry Hemingway·bioRxiv·Jun 27, 2019
- Electronic Health Record and Genome-wide Genetic Data in Generation Scotland Participants
Shona M. Kerr, Archie I Campbell, … Caroline Hayward·Wellcome Open ResearchPeer-reviewed·Sep 18, 2017
- The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants
Layla Aref, Lisa A. Bastarache, Jacob Hughey·BioinformaticsPeer-reviewed·Sep 9, 2022