Supplemental figure 2 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 2 for "Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.". [Image] (Unpublished)

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Abstract

Illumina CLIA Whole genome sequencing data summarized in the form of a Circos plot. We show here a sum-mary of the genomic coordinates corresponding to the 344 genes that were clinically evaluated by the Illumina CLIA WGS pipeline, the frequency of IGN validated SNVs across the genome (plotted in red) and a summary of highly confident copy number variants (CNVs) that were simultaneously detected by the Estimation by Read Depth with SNVs (ERDS) and Copy Number Analysis Method (CNAM) detec-tion methods (plotted in black). Duplications and deletions are depicted as elevations and declinations, respectively.

Item Type: Image
Subjects: Investigative techniques and equipment
Investigative techniques and equipment > assays
Investigative techniques and equipment > assays > next generation sequencing
Investigative techniques and equipment > assays > whole genome sequencing
CSHL Authors:
Communities: CSHL labs > Lyon lab
Depositing User: Matt Covey
Date Deposited: 16 Aug 2013 15:18
Last Modified: 16 Aug 2013 15:18
URI: http://repository.cshl.edu/id/eprint/28536

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