ArticleCell2018
Disease Heritability Inferred from Familial Relationships Reported in Medical Records.
Article in Cell, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.Nature communications · 2018Pooled it
- The CODATwins Project: The Current Status and Recent Findings of COllaborative Project of Development of Anthropometrical Measures in Twins.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2019Trial
- Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort.American journal of hematology · 2019Trial
- Cell-type specific analyses in blood and gut identify cis-eQTL matching 140 IBD risk loci and entrectinib as repurposing candidate.Nature communications · 2026Article
- Multi-Level Latent Variable Models for Coheritability Analysis in Electronic Health Records.Statistics in medicine · 2026Article
- Family history of cardiovascular disease and its modifiable risk factors and association with offspring risk profile.International journal of cardiology. Cardiovascular risk and prevention · 2026Article
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
- Mapping the heritability of disease: a nationwide study.Nature communications · 2026Article
- Handling Missing Race and Ethnicity in an EHR-Based Study Through Integration of Individual Measures and Neighborhood Sociodemographic and Socioeconomic Measures.Microorganisms · 2026Article
- Computationally efficient methods for estimating phenome-wide coheritability of multi-type phenotypes using biobank data.Communications biology · 2025Article
- Mediating Role of Trauma Connecting Psychiatric Family History and Adolescent Mental Health.Biological psychiatry global open science · 2025Article
- Identifying family structures from obituaries and matching them to patients in an electronic heath record.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- BIGFAM - variance components analysis from relatives without genotype.Nature communications · 2025Article
- Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research.Molecular psychiatry · 2025Review
- Enhancing patient representation learning with inferred family pedigrees improves disease risk prediction.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Linking household members and defining relational networks using routine health data.Current opinion in pediatrics · 2025Review
- Automatic detection of n-degree family members.Frontiers in genetics · 2025Article
- Article
- Breast and bowel cancers diagnosed in people 'too young to have cancer': A blueprint for research using family and twin studies.Genetic epidemiology · 2024Article
- Identification of Individuals With Hereditary Cancer Risk Through Multiple Data Sources: A Population-Based Method Using the GARDE Platform and The Utah Population Database.JCO clinical cancer informatics · 2024Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.