Supplemental figure 5 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person."

O'Rawe, Jason, Fang, Han, Rynearson, Shawn, Robison, Reid J., Kiruluta, Edward S., Higgins, Gerald, Eilbeck, Karen, Reese, Martin G., Lyon, Gholson J. (2013) Supplemental figure 5 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Image] (Unpublished)

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Abstract

Screen shot of a Gene Summary from the Omicia Opal system on ChAT, encoding choline O-acetyltransferase, which synthesizes the neurotransmitter acetylcholine. Omicia Opal was used prioritize and identify genetic variations contained within the whole genome sequence of M.A. that might be of potential clinical relevance to his neuropsychiatric phenotype. In this figure, we high-light the Opal system as being one method by which clinicians can scan genetic data for clinically relevant information in a robust and comprehensive way. We demonstrate the Opal system with one such variant in ChAT, a heterozygous Asp>Asn variation on chromosome 11.

Item Type: Image
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 Deposited: 28 May 2013 19:43
Last Modified: 16 Aug 2013 15:14
Related URLs:
URI: http://repository.cshl.edu/id/eprint/28352

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