Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 70,186 bioRxiv papers from 306,470 authors.
Estimate of disease heritability using 7.4 million familial relationships inferred from electronic health records
Gillian M. Belbin,
Eimear E Kenny,
David K Vawdrey,
Nicholas P. Tatonetti
Posted 28 Jul 2016
bioRxiv DOI: 10.1101/066068
Posted 28 Jul 2016
Heritability is essential for understanding the biological causes of disease, but requires laborious patient recruitment and phenotype ascertainment. Electronic health records (EHR) passively capture a wide range of clinically relevant data and provide a novel 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 millions of 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 literature and between sites. Inconsistencies were indicative of limitations and opportunities unique to EHR research. These analyses provide a novel validation of the use of EHRs for genetics and disease research.
- Downloaded 3,084 times
- Download rankings, all-time:
- Site-wide: 1,183 out of 70,182
- In genetics: 106 out of 3,896
- Year to date:
- Site-wide: 55,427 out of 70,182
- Since beginning of last month:
- Site-wide: 35,732 out of 70,182
Downloads over time
Distribution of downloads per paper, site-wide
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!