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

ABSTRACT: 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.

SUBMITTER: Larson NB

PROVIDER: S-EPMC9870988 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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

Larson Nicholas Bradley NB Oberg Ann L AL Adjei Alex A AA Wang Liguo L

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 20221112 2

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 ...[more]

PMID: 36379355

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