Lab-wide association scan of polygenic scores identifies biomarkers of complex disease
By
Jessica K Dennis,
Julia M Sealock,
Peter Straub,
Donald Hucks,
Ky’Era Actkins,
Annika Faucon,
Slavina B Goleva,
Maria Nirachou,
Kritika Singh,
Theodore Morley,
Douglas M Ruderfer,
Jonathan D Mosley,
Guanhua Chen,
Lea K Davis
Posted 28 Jan 2020
medRxiv DOI: 10.1101/2020.01.24.20018713
Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and monitor disease conditions. Test results are typically stored in electronic health records (EHRs), and a growing number of EHRs are linked to patient DNA, offering unprecedented opportunities to query relationships between clinical lab tests and genetics. Clinical lab data, however, are of uneven quality, and previous studies have focused on a small number of lab traits. We present two methods, QualityLab and LabWAS, to clean and analyze EHR labs at scale in a Lab-Wide Association Scan. In a proof of concept analysis focused on blood lipids and coronary artery disease, we found that heritability estimates of QualityLab lipid values were comparable to previous reports; polygenic scores for lipids were strongly associated with the referent lipid in a LabWAS; and a LabWAS of a polygenic score for coronary artery disease recapitulated known heart disease biomarker profiles and identified novel associations. Our methods extend previous EHR-based analysis tools and increase the amount of EHR data usable for discovery.
Download data
- Downloaded 1,008 times
- Download rankings, all-time:
- Site-wide: 39,389
- In genetic and genomic medicine: 247
- Year to date:
- Site-wide: 86,617
- Since beginning of last month:
- Site-wide: 130,109
Altmetric data
Downloads over time
Distribution of downloads per paper, site-wide
PanLingua
News
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 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!