O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (August 2013) Supplemental file 8 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)
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Abstract
Expert curation of pharmacogenetic variants identified by Omicia Opal pipeline. All single nucleotide variants(SNPs), copy number variants (CNVs), indels and other variants identified as important and provided by Omicia’s Opal Annotation Pipeline were investigated further using GenomePharm and manual review of the published literature and clinical trial data. These were compared to genes listed in Pharma DMET, Pharma ADME, and the ADME Pharma consortium. Comparisons were made of known genevariant- drug-disease interactions as identified in GenomePharm and stored in a temporary NoQL database. Judgments were made by GH, in which a given pharmacogenomic variant had to have been replicated >6 times in adequately powered randomized controlled trials using individuals of European American ancestry.
| Item Type: | Dataset |
|---|---|
| Subjects: | Investigative techniques and equipment Investigative techniques and equipment > assays Investigative techniques and equipment > assays > whole genome sequencing |
| CSHL Authors: | |
| Communities: | CSHL labs > Lyon lab |
| Depositing User: | Matt Covey |
| Date: | 15 August 2013 |
| Date Deposited: | 28 May 2013 19:18 |
| Last Modified: | 16 Aug 2013 14:46 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/28347 |
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