Work

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

Year: 2022

Type: article

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.

Source: Journal of Thoracic Oncology

DOI: 10.1016/j.jtho.2022.11.006

Authors: Nicholas Bradley Larson, Ann L. Oberg, Alex A. Adjei, Liguo Wang

Institutions: Mayo Clinic, Cleveland Clinic

Language: English

Topic: Cancer Genomics and Diagnostics

Subfield: Cancer Research

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,220