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e-Health 2025 Conference and Tradeshow
2025-06-01 - 2025-06-03    
10:00 am - 5:00 pm
The 2025 e-Health Conference provides an exciting opportunity to hear from your peers and engage with MEDITECH.
HIMSS Europe
2025-06-10 - 2025-06-12    
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Transforming Healthcare in Paris From June 10-12, 2025, the HIMSS European Health Conference & Exhibition will convene in Paris to bring together Europe’s foremost health [...]
38th World Congress on  Pharmacology
2025-06-23 - 2025-06-24    
11:00 am - 4:00 pm
About the Conference Conference Series cordially invites participants from around the world to attend the 38th World Congress on Pharmacology, scheduled for June 23-24, 2025 [...]
2025 Clinical Informatics Symposium
2025-06-24 - 2025-06-25    
11:00 am - 4:00 pm
Virtual Event June 24th - 25th Explore the agenda for MEDITECH's 2025 Clinical Informatics Symposium. Embrace the future of healthcare at MEDITECH’s 2025 Clinical Informatics [...]
International Healthcare Medical Device Exhibition
2025-06-25 - 2025-06-27    
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Japan Health will gather over 400 innovative healthcare companies from Japan and overseas, offering a unique opportunity to experience cutting-edge solutions and connect directly with [...]
Electronic Medical Records Boot Camp
2025-06-30 - 2025-07-01    
10:30 am - 5:30 pm
The Electronic Medical Records Boot Camp is a two-day intensive boot camp of seminars and hands-on analytical sessions to provide an overview of electronic health [...]
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HIMSS Europe
10 Jun 25
France
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38th World Congress on  Pharmacology
23 Jun 25
Paris, France
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International Healthcare Medical Device Exhibition
25 Jun 25
Suminoe-Ku, Osaka 559-0034
Events on 2025-06-30

Events

research papers

Researchers repurpose genetic data, EMR to perform large-scale PheWAS study

genetic data

Vanderbilt University Medical Center researchers and co-authors from four other U.S. institutions from the Electronic Medical Records and Genomics (eMERGE) Network are repurposing genetic data and electronic medical records to perform the first large-scale phenome-wide association study (PheWAS), released today in Nature Biotechnology.

Traditional genetic studies start with one phenotype and look at one or many genotypes, PheWAS does the inverse by looking at many diseases for one genetic variant or genotype.

“This study broadly shows that we can take decades of off-the-shelf electronic medical record data, link them to DNA, and quickly validate known associations across hundreds of previous studies,” said lead author Josh Denny, M.D., M.S., Vanderbilt Associate Professor of Biomedical Informatics and Medicine. “And, at the same time, we can discover many new associations.

“A third important finding is that our method does not select any particular disease – it is searches simultaneously for more than a thousand diseases that bring one to the doctor. By doing this, we were able to show some genes that are associated several diseases or traits, while others are not,” he added.

Researchers used genotype data from 13,835 individuals of European descent, exhibiting 1,358 diseases collectively. The team then ran PheWAS on 3,144 single-nucleotide polymorphisms (SNP’s), checking each SNP’s association with each of the 1,358 disease phenotypes.

As a result, study authors reported 63 previously unknown SNP-disease associations, the strongest of which related to skin diseases.

“The key result is that the method works,” Denny said. “This is a robust test of PheWAS across all domains of disease, showing that you can see all types of phenotypes in the electronic medical record – cancers, diabetes, heart diseases, brain diseases, etc. – and replicate what’s known about their associations with various SNPs.”

An online PheWAS catalog spawned by the study may help investigators understand the influence of many common genetic variants on human conditions.

source