A Clinician's Guide to Bioinformatics for Next-Generation Sequencing

Research output: Contribution to journalReview articlepeer-review


Next-generation sequencing (NGS) technologies are high-throughput methods for DNA sequencing and have become a widely adopted tool in cancer research. The sheer amount and variety of data generated by NGS assays require sophisticated computational methods and bioinformatics expertise. In this review, we provide background details of NGS technology and basic bioinformatics concepts for the clinician investigator interested in cancer research applications, with a focus on DNA-based approaches. We introduce the general principles of presequencing library preparation, postsequencing alignment, and variant calling. We also highlight the common variant annotations and NGS applications for other molecular data types. Finally, we briefly discuss the revealed utility of NGS methods in NSCLC research and study design considerations for research studies that aim to leverage NGS technologies for clinical care.

Original languageEnglish (US)
Pages (from-to)143-157
Number of pages15
JournalJournal of Thoracic Oncology
Issue number2
StatePublished - Feb 2023


  • Bioinformatics
  • DNA
  • Next-generation sequencing
  • Review

ASJC Scopus subject areas

  • Oncology
  • Pulmonary and Respiratory Medicine


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