Title |
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis
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Published in |
Frontiers in Genetics, November 2014
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DOI | 10.3389/fgene.2014.00401 |
Pubmed ID | |
Authors |
Bahram Namjou, Keith Marsolo, Robert J. Caroll, Joshua C. Denny, Marylyn D. Ritchie, Shefali S. Verma, Todd Lingren, Aleksey Porollo, Beth L. Cobb, Cassandra Perry, Leah C. Kottyan, Marc E. Rothenberg, Susan D. Thompson, Ingrid A. Holm, Isaac S. Kohane, John B. Harley |
Abstract |
We report the first pediatric specific Phenome-Wide Association Study (PheWAS) using electronic medical records (EMRs). Given the early success of PheWAS in adult populations, we investigated the feasibility of this approach in pediatric cohorts in which associations between a previously known genetic variant and a wide range of clinical or physiological traits were evaluated. Although computationally intensive, this approach has potential to reveal disease mechanistic relationships between a variant and a network of phenotypes. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Switzerland | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | <1% |
India | 1 | <1% |
Canada | 1 | <1% |
Taiwan | 1 | <1% |
Unknown | 111 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 23 | 20% |
Student > Ph. D. Student | 20 | 17% |
Student > Master | 12 | 10% |
Student > Bachelor | 8 | 7% |
Student > Doctoral Student | 8 | 7% |
Other | 20 | 17% |
Unknown | 24 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 29 | 25% |
Biochemistry, Genetics and Molecular Biology | 13 | 11% |
Agricultural and Biological Sciences | 12 | 10% |
Neuroscience | 11 | 10% |
Psychology | 5 | 4% |
Other | 13 | 11% |
Unknown | 32 | 28% |