title: Bioinformatics for clinical next generation sequencing.
abstract: BACKGROUND
  Next generation sequencing (NGS)-based assays continue to redefine the field of genetic testing. Owing to the complexity of the data, bioinformatics has become a necessary component in any laboratory implementing a clinical NGS test.
  
  
  BACKGROUND
  The computational components of an NGS-based work flow can be conceptualized as primary, secondary, and tertiary analytics. Each of these components addresses a necessary step in the transformation of raw data into clinically actionable knowledge. Understanding the basic concepts of these analysis steps is important in assessing and addressing the informatics needs of a molecular diagnostics laboratory. Equally critical is a familiarity with the regulatory requirements addressing the bioinformatics analyses. These and other topics are covered in this review article.
  
  
  CONCLUSIONS
  Bioinformatics has become an important component in clinical laboratories generating, analyzing, maintaining, and interpreting data from molecular genetics testing. Given the rapid adoption of NGS-based clinical testing, service providers must develop informatics work flows that adhere to the rigor of clinical laboratory standards, yet are flexible to changes as the chemistry and software for analyzing sequencing data mature.
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Rochester, MN.
authors.forename: Gavin R
authors.initials: GR
authors.lastname: Oliver
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Rochester, MN.
authors.forename: Steven N
authors.initials: SN
authors.lastname: Hart
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Rochester, MN. klee.eric@mayo.edu.
authors.forename: Eric W
authors.initials: EW
authors.lastname: Klee
mesh_terms: D000465:Algorithms; D019411:Clinical Laboratory Techniques / Q000295:instrumentation / Q000379:methods* / Q000639:trends; D019295:Computational Biology / Q000295:instrumentation / Q000379:methods* / Q000639:trends; D015894:Genome, Human; D006801:Humans; D017410:Practice Guidelines as Topic; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000639:trends