Bioinformatics for clinical next generation sequencing

Gavin R. Oliver, Steven N. Hart, Eric W. Klee

Research output: Contribution to journalReview articlepeer-review

56 Scopus citations


Content: The computational components of an NGSbased 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.

Summary: 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.

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.

Original languageEnglish (US)
Pages (from-to)124-135
Number of pages12
JournalClinical chemistry
Issue number1
StatePublished - Jan 1 2015

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


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