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 2 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Dataset] (Unpublished)
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Abstract
The Illumina CLIA WGS clinical report, which includes the clinical evaluation of 140 conditions associated with 344 genes. Clinical interpretation was performed using interpretation guidelines and recommendations from the American College of Medical Genetics. A cumulative total of 1247 variants were detected and evaluated for clinical significance with one single variation being determined as “likely pathogenic”, a p.Arg245Gln change in PHYH.
| 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 18:22 |
| Last Modified: | 16 Aug 2013 14:27 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/28341 |
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