A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?

Academic Pathology
Yuriy O AlekseyevDaniel Remick

Abstract

Next-generation sequencing refers to a high-throughput technology that determines the nucleic acid sequences and identifies variants in a sample. The technology has been introduced into clinical laboratory testing and produces test results for precision medicine. Since next-generation sequencing is relatively new, graduate students, medical students, pathology residents, and other physicians may benefit from a primer to provide a foundation about basic next-generation sequencing methods and applications, as well as specific examples where it has had diagnostic and prognostic utility. Next-generation sequencing technology grew out of advances in multiple fields to produce a sophisticated laboratory test with tremendous potential. Next-generation sequencing may be used in the clinical setting to look for specific genetic alterations in patients with cancer, diagnose inherited conditions such as cystic fibrosis, and detect and profile microbial organisms. This primer will review DNA sequencing technology, the commercialization of next-generation sequencing, and clinical uses of next-generation sequencing. Specific applications where next-generation sequencing has demonstrated utility in oncology are provided.

References

Feb 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·A M Maxam, W Gilbert
Oct 4, 1991·Science·T HunkapillerL Hood
Mar 25, 1990·Nucleic Acids Research·H Swerdlow, R Gesteland
Aug 11, 1990·Nucleic Acids Research·J A LuckeyL M Smith
Jun 12, 1986·Nature·L M SmithL E Hood
Jul 28, 1995·Science·R D FleischmannJ M Merrick
Dec 16, 1998·Science·UNKNOWN C. elegans Sequencing Consortium
Mar 25, 2000·Science·M D AdamsJ C Venter
Feb 22, 2001·Science·J C VenterX Zhu
Mar 10, 2001·Nature·E S LanderUNKNOWN International Human Genome Sequencing Consortium
Dec 6, 2002·Nature·UNKNOWN Mouse Genome Sequencing ConsortiumEric S Lander
Apr 2, 2004·Nature·Richard A GibbsUNKNOWN Rat Genome Sequencing Project Consortium
Aug 2, 2005·Nature·Marcel MarguliesJonathan M Rothberg
Sep 7, 2007·PLoS Biology·Samuel LevyJ Craig Venter
Apr 19, 2008·Nature·David A WheelerJonathan M Rothberg
Nov 7, 2008·Nature·David R BentleyAnthony J Smith
Feb 11, 2011·Nature·Eric D GreenUNKNOWN National Human Genome Research Institute
Jul 22, 2011·Nature·Jonathan M RothbergJames Bustillo
Dec 2, 2011·Methods in Molecular Biology·Andreas Gogol-Döring, Wei Chen
Aug 7, 2012·Nature Reviews. Microbiology·Nicholas J LomanMark J Pallen
Jun 8, 2013·Molecular Genetics and Metabolism·Marcos MoreyJosé A Cocho
Jun 14, 2013·Science Translational Medicine·Jeanette J McCarthyGeoffrey S Ginsburg
Aug 28, 2013·The Journal of Clinical Endocrinology and Metabolism·Marina N NikiforovaYuri E Nikiforov
Dec 18, 2013·Cancer Genetics·Fengqi Chang, Marilyn M Li
Apr 26, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Holly LaDucaElizabeth Chao
Jun 5, 2014·The New England Journal of Medicine·Michael R WilsonCharles Y Chiu
Jul 6, 2014·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Ferga C GleesonMichael J Levy
Jul 9, 2014·Genome Biology·Mick Watson
Aug 12, 2014·Trends in Genetics : TIG·Erwin L van DijkClaude Thermes
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Hane LeeStanley F Nelson
Oct 28, 2014·Cancer·Ian S HagemannRamaswamy Govindan
Nov 19, 2014·Orphanet Journal of Rare Diseases·María J AparisiJosé M Millán
Jan 15, 2015·Journal of Laboratory Automation·Lucas HixsonJim Osborne
Jan 31, 2015·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Anne Marie QuinnFiona H Blackhall

❮ Previous
Next ❯

Citations

Sep 7, 2019·Journal of Oral Microbiology·Nizam AbdullahLakshman Perera Samaranayake
Mar 4, 2020·Perspectives on Medical Education·Jorge CervantesMin Chih Wang
Feb 19, 2020·Journal of Lower Genital Tract Disease·Ruifang Zheng, Debra S Heller
Feb 5, 2019·Expert Opinion on Therapeutic Patents·Steven B Ouellette
Jul 1, 2019·Current Treatment Options in Oncology·Lorenzo GerratanaMassimo Cristofanilli
Sep 21, 2020·Bulletin of Mathematical Biology·Raina S RobevaLouis J Gross
Nov 4, 2020·Current Gastroenterology Reports·Nichol S MartinezDivyesh V Sejpal
Nov 17, 2020·Frontiers in Genetics·Aquillah M KanziTulio de Oliveira
Jan 22, 2021·Seminars in Cancer Biology·Natalie Jäger
Nov 14, 2020·Current Opinion in Hematology·Kyle FerchenH Leighton Grimes
Apr 4, 2021·Journal of Clinical Medicine·Yuki TanisakaShomei Ryozawa
Jul 14, 2021·Chemical Reviews·Min LiQiang Xia
Jan 13, 2022·Pediatric Annals·Christine CahaneyTaumoha Ghosh

❮ Previous
Next ❯

Methods Mentioned

BETA
nucleic acid sequencing
electrophoresis
Whole
chip
PCR
genotyping
biopsy

Software Mentioned

Illumina
NovaSeq
Ion
Ion Torrent
MiSeq

Related Concepts

Related Feeds

Cancer Sequencing

Several sequencing approaches are employed to understand and examine tumor development and progression. These include whole genome as well as RNA sequencing. Here is the latest research on cancer sequencing.