title: Clinical analysis of genome next-generation sequencing data using the Omicia platform.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  Here, the authors show the features of the Opal system and their use in uncovering variants of clinical significance.
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA. emily.m.coonrod@aruplab.com
authors.forename: Emily M
authors.initials: EM
authors.lastname: Coonrod
authors.forename: Rebecca L
authors.initials: RL
authors.lastname: Margraf
authors.forename: Archie
authors.initials: A
authors.lastname: Russell
authors.forename: Karl V
authors.initials: KV
authors.lastname: Voelkerding
authors.forename: Martin G
authors.initials: MG
authors.lastname: Reese
mesh_terms: D002874:Chromosome Mapping; D019295:Computational Biology; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D016045:Human Genome Project; D006801:Humans; D062346:Molecular Medicine; D057089:Pathology, Molecular; D020641:Polymorphism, Single Nucleotide; D012984:Software
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