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Expert Rev Mol Diagn. 2013 Jul;13(6):529-40. doi: 10.1586/14737159.2013.811907.

Clinical analysis of genome next-generation sequencing data using the Omicia platform.

Author information

1
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA. emily.m.coonrod@aruplab.com

Abstract

AIMS:

Next-generation sequencing is being implemented in the clinical laboratory environment for the purposes of candidate causal variant discovery in patients affected with a variety of genetic disorders. The successful implementation of this technology for diagnosing genetic disorders requires a rapid, user-friendly method to annotate variants and generate short lists of clinically relevant variants of interest. This report describes Omicia's Opal platform, a new software tool designed for variant discovery and interpretation in a clinical laboratory environment. The software allows clinical scientists to process, analyze, interpret and report on personal genome files.

MATERIALS & METHODS:

To demonstrate the software, the authors describe the interactive use of the system for the rapid discovery of disease-causing variants using three cases.

RESULTS & CONCLUSION:

Here, the authors show the features of the Opal system and their use in uncovering variants of clinical significance.

PMID:
23895124
PMCID:
PMC3828661
DOI:
10.1586/14737159.2013.811907
[Indexed for MEDLINE]
Free PMC Article
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