# Next-generation sequencing (NGS)

Source: https://onco.cc/terms/ngs/  
OnCo record `ngs` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Reading millions of DNA fragments in parallel, the engine behind every modern genomic test.

## Summary

Next-generation sequencing (NGS) reads millions of DNA fragments in parallel and is the engine behind every modern genomic test. Short-read instruments from Illumina dominate clinical practice, while long-read platforms from PacBio and Oxford Nanopore resolve structural variants and methylation. Panels, exomes, genomes and transcriptomes are all NGS applications, so the term underlies Comprehensive genomic profiling, Whole-exome & whole-genome sequencing and RNA sequencing & expression profiling, and it connects to the DNA term and the ALASCCA trial. It also appears in the bottleneck on data silos and in ideas on sequencing reports that list open matched trials, machine-readable genomic reports deposited nationally and reflex genomic profiling at diagnosis of advanced cancer.

## Fields

- Kind: Term
- Last checked: 2026-09-04

## Notes

- Lung cancer: NICE NG122 (1.2.12) says to see the National Genomics Test Directory for guidance on next-generation sequencing panels to guide treatment. In practice this is the single test that decides between tablets, immunotherapy and chemotherapy for most people with advanced non-squamous disease, which is why waiting a short time for the result is usually a better decision than starting quickly on the wrong route. The NHS explains that your hospital specialist requests the test, usually on a sample already taken.

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/DNA_sequencing
- Wikipedia: https://en.wikipedia.org/wiki/DNA_sequencing
- NICE NG122: lung cancer, diagnosis and staging: https://www.nice.org.uk/guidance/ng122/chapter/Diagnosis-and-staging
- NHS: genetic and genomic testing: https://www.nhs.uk/tests-and-treatments/genetic-and-genomic-testing/

## Connected records

- cancers: [Colorectal cancer](https://onco.cc/cancers/colorectal/), [Gallbladder cancer](https://onco.cc/cancers/gallbladder/), [Intrahepatic cholangiocarcinoma](https://onco.cc/cancers/intrahepatic-cholangiocarcinoma/), [KRAS G12C-mutant colorectal cancer](https://onco.cc/cancers/kras-g12c-colorectal/), [Lung cancer (all types)](https://onco.cc/cancers/lung-cancer/), [Non-Hodgkin lymphoma (all types)](https://onco.cc/cancers/non-hodgkin-lymphoma/), [Non-small-cell lung cancer](https://onco.cc/cancers/nsclc/), [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/), [POLE-ultramutated endometrial cancer](https://onco.cc/cancers/endometrial-pole-ultramutated/), [Prostate cancer](https://onco.cc/cancers/prostate/), [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- technologies: [Comprehensive genomic profiling](https://onco.cc/technologies/cgp/), [Immunoglobulin and T-cell receptor clonality testing](https://onco.cc/technologies/clonality-testing/), [RNA sequencing & expression profiling](https://onco.cc/technologies/rna-seq/), [Whole-exome & whole-genome sequencing](https://onco.cc/technologies/wes-wgs/)
- key papers: [A probabilistic classification tool for genetic subtypes of diffuse large B cell lymphoma with therapeutic implications](https://onco.cc/key-papers/paper-wright-lymphgen-genetic-subtypes-dlbcl-cancer-cell-2020/), [Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib](https://onco.cc/key-papers/paper-lynch-egfr-activating-mutations-gefitinib-nejm-2004/), [Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer](https://onco.cc/key-papers/paper-kwak-crizotinib-alk-nsclc-nejm-2010/), [Capmatinib in MET exon 14-mutated or MET-amplified non-small-cell lung cancer](https://onco.cc/key-papers/paper-wolf-geometry-mono-1-capmatinib-nejm-2020/), [Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer](https://onco.cc/key-papers/paper-tie-ctdna-minimal-residual-disease-stage-ii-colon-sci-transl-med-2016/), [Clinical implications of plasma-based genotyping with the delivery of personalized therapy in metastatic non-small cell lung cancer](https://onco.cc/key-papers/paper-aggarwal-plasma-genotyping-personalised-therapy-jama-oncol-2019/), [Clinical sequencing defines the genomic landscape of metastatic colorectal cancer](https://onco.cc/key-papers/paper-yaeger-metastatic-colorectal-genomic-landscape-cancer-cell-2018/), [Comprehensive genomic profiles of small cell lung cancer](https://onco.cc/key-papers/paper-george-sclc-genomic-profiles-nature-2015/), [Comprehensive molecular characterization of human colon and rectal cancer](https://onco.cc/key-papers/paper-tcga-colorectal-comprehensive-characterization-nature-2012/), [Distinct biological subtypes and patterns of genome evolution in lymphoma revealed by circulating tumour DNA](https://onco.cc/key-papers/paper-scherer-ctdna-lymphoma-subtypes-genome-evolution-sci-transl-med-2016/), [EGFR mutation and resistance of non-small-cell lung cancer to gefitinib](https://onco.cc/key-papers/paper-kobayashi-egfr-t790m-gefitinib-resistance-nejm-2005/), [EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy](https://onco.cc/key-papers/paper-paez-egfr-mutations-gefitinib-science-2004/), [Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma](https://onco.cc/key-papers/paper-mok-ipass-gefitinib-pulmonary-adenocarcinoma-nejm-2009/), [Genetics and pathogenesis of diffuse large B-cell lymphoma](https://onco.cc/key-papers/paper-schmitz-genetics-pathogenesis-dlbcl-nejm-2018/), [Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors](https://onco.cc/key-papers/paper-sequist-genotypic-histological-evolution-egfr-resistance-sci-transl-med-2011/), [Geographic and genetic diversity in gallbladder cancer mutation profiles: insights from a worldwide exome analysis](https://onco.cc/key-papers/paper-garate-calderon-gallbladder-cancer-worldwide-exome-ebiomedicine-2026/), [Hu 2018: evaluating mismatch repair deficiency in pancreatic adenocarcinoma, challenges and recommendations](https://onco.cc/key-papers/paper-hu-mismatch-repair-deficiency-pancreatic-adenocarcinoma-ccr-2018/), [Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer](https://onco.cc/key-papers/paper-soda-eml4-alk-fusion-nature-2007/), [Inherited DNA-repair gene mutations in men with metastatic prostate cancer](https://onco.cc/key-papers/paper-pritchard-inherited-dna-repair-metastatic-prostate-nejm-2016/), [Integrative genomic profiling of human prostate cancer](https://onco.cc/key-papers/paper-taylor-integrative-genomic-profiling-cancer-cell-2010/), [Molecular biomarkers for the evaluation of colorectal cancer: guideline from ASCP, CAP, AMP and ASCO](https://onco.cc/key-papers/paper-sepulveda-molecular-biomarkers-colorectal-guideline-jco-2017/), [Molecular determinants of response to anti-PD-1 and anti-PD-L1 blockade in patients with non-small-cell lung cancer profiled with targeted next-generation sequencing](https://onco.cc/key-papers/paper-rizvi-targeted-ngs-immunotherapy-determinants-jco-2018/), [Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes](https://onco.cc/key-papers/paper-chapuy-molecular-subtypes-dlbcl-nat-med-2018/), [NILE: clinical utility of comprehensive cell-free DNA analysis to identify genomic biomarkers in patients with newly diagnosed metastatic non-small cell lung cancer](https://onco.cc/key-papers/paper-leighl-nile-cfdna-tissue-genotyping-ccr-2019/), [Non-V600 BRAF mutations define a clinically distinct molecular subtype of metastatic colorectal cancer](https://onco.cc/key-papers/paper-jones-non-v600-braf-colorectal-jco-2017/), [Overall survival in patients with pancreatic cancer receiving matched therapies following molecular profiling: a retrospective analysis of the Know Your Tumor registry trial](https://onco.cc/key-papers/paper-pishvaian-lancet-oncol/), [Panitumumab-FOLFOX4 treatment and RAS mutations in colorectal cancer (PRIME)](https://onco.cc/key-papers/paper-douillard-prime-panitumumab-ras-nejm-2013/), [Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution](https://onco.cc/key-papers/paper-abbosh-phylogenetic-ctdna-lung-cancer-nature-2017/), [Prospective comprehensive genomic profiling of 3,476 primary and metastatic prostate tumours](https://onco.cc/key-papers/paper-chung-comprehensive-genomic-profiling-prostate-jco-po-2019/), [Prospective comprehensive molecular characterization of lung adenocarcinomas for efficient patient matching to approved and emerging therapies](https://onco.cc/key-papers/paper-jordan-prospective-lung-adenocarcinoma-msk-cancer-discov-2017/), [Punctuated evolution of prostate cancer genomes](https://onco.cc/key-papers/paper-baca-punctuated-evolution-chromoplexy-cell-2013/), [Real-time targeted genome profile analysis of pancreatic ductal adenocarcinomas identifies genetic alterations that might be targeted with existing drugs or used as biomarkers](https://onco.cc/key-papers/paper-singhi-targeted-genome-profiling-3594-pdac-gastroenterology-2019/), [Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer](https://onco.cc/key-papers/paper-tomlins-tmprss2-ets-fusion-science-2005/), [SU2C-PCF: integrative clinical genomics of advanced prostate cancer](https://onco.cc/key-papers/paper-robinson-integrative-clinical-genomics-advanced-prostate-cell-2015/), [TCGA: the molecular taxonomy of primary prostate cancer](https://onco.cc/key-papers/paper-tcga-molecular-taxonomy-primary-prostate-cell-2015/), [The clonal and mutational evolution spectrum of primary triple-negative breast cancers](https://onco.cc/key-papers/paper-shah-tnbc-clonal-evolution-nature-2012/), [The mutational landscape of lethal castration-resistant prostate cancer](https://onco.cc/key-papers/paper-grasso-mutational-landscape-lethal-crpc-nature-2012/), [TOPARP-A: DNA-repair defects and olaparib in metastatic prostate cancer](https://onco.cc/key-papers/paper-mateo-toparp-a-olaparib-dna-repair-nejm-2015/), [TRACERx first 100: tracking how lung cancers evolve, and how chromosomal chaos predicts relapse](https://onco.cc/key-papers/paper-tracerx-100-nejm-2017/), [Updated molecular testing guideline for the selection of lung cancer patients for treatment with targeted tyrosine kinase inhibitors](https://onco.cc/key-papers/paper-lindeman-lung-molecular-testing-guideline-jto-2018/), [Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs](https://onco.cc/key-papers/paper-kris-lung-cancer-mutation-consortium-jama-2014/)
- ideas: [A single calibrated tumour mutational burden across all sequencing panels](https://onco.cc/ideas/idea-tr2-tmb-calibration-standard/), [Assign first-line treatment in diffuse large B-cell lymphoma by genetic subtype, not by a three-antibody stain](https://onco.cc/ideas/lymphoma-ev-genetic-subtype-directed-first-line/), [Every pathology and genomic report ships with a signed plain-language version](https://onco.cc/ideas/idea-moon-results-in-plain-words/), [Every tumour genomic report machine-readable and deposited nationally](https://onco.cc/ideas/idea-data-structured-genomic-reports/), [Every tumour sequencing report lists open, nearby, matched trials pulled live](https://onco.cc/ideas/idea-tr1-ngs-report-live-trial-match/), [Label every targetable mutation as truncal or branch on the report](https://onco.cc/ideas/idea-bio1-truncal-branch-labelling/), [Link every national cancer registry to tumour genomics](https://onco.cc/ideas/idea-data-registry-genomics-linkage-programme/), [Make resistance a diagnosis: sequence at every progression and choose the next line from what the tumour became](https://onco.cc/ideas/idea-lung-resistance-directed-sequencing-at-every-progression/), [Pathologists order genomic profiling automatically at diagnosis of advanced cancer](https://onco.cc/ideas/idea-acc-reflex-genomic-profiling-at-diagnosis/), [Public gold-standard datasets for validating every cancer biomarker test](https://onco.cc/ideas/idea-tr2-open-cdx-validation-sets/), [Publish the four numbers the NHS lung cancer pathway does not currently measure: reflex testing rate, genomic turnaround, surgical access and a lung-specific waiting time in every nation](https://onco.cc/ideas/idea-lung-uk-screening-testing-and-access-gaps/), [Take ctDNA-guided de-escalation beyond stage II, and stop escalating on a positive result until a trial says it helps](https://onco.cc/ideas/idea-crc-ctdna-de-escalation-beyond-stage-ii/), [Test every man for DNA repair faults on the day his prostate cancer is found to have spread, not three treatments later](https://onco.cc/ideas/idea-prostate-hrr-testing-at-metastatic-diagnosis/), [Use circulating tumour DNA instead of the interim scan to decide what happens next](https://onco.cc/ideas/lymphoma-ev-ctdna-instead-of-the-interim-scan/), [Watch for the cancer changing cell type before the biopsy says neuroendocrine, and act on it](https://onco.cc/ideas/idea-prostate-plasticity-surveillance-before-it-is-neuroendocrine/)
- terms: [AML with myelodysplasia-related gene mutations (AML-MR)](https://onco.cc/terms/aml-myelodysplasia-related/), [BCR::ABL1 kinase domain mutations (T315I and others)](https://onco.cc/terms/abl1-kinase-domain-mutations/), [BTK C481S, PLCG2 and BCL2 G101V resistance mutations](https://onco.cc/terms/btki-bcl2i-resistance-mutations/), [Chromoplexy](https://onco.cc/terms/chromoplexy/), [DNA](https://onco.cc/terms/dna-term/), [Genome-wide loss of heterozygosity (gLOH)](https://onco.cc/terms/genome-wide-loss-of-heterozygosity/), [Genomic profiling](https://onco.cc/terms/genomic-profiling/), [HER2 testing in biliary tract cancer (IHC, ISH and NGS)](https://onco.cc/terms/her2-testing-in-biliary-cancer/), [IPSS-R and IPSS-M (myelodysplastic syndrome risk scores)](https://onco.cc/terms/ipss-m-ipss-r/), [LymphGen and the genetic clusters of large B-cell lymphoma](https://onco.cc/terms/lymphoma-bio-lymphgen/), [MPN driver mutations (JAK2 V617F, CALR, MPL) and allele burden](https://onco.cc/terms/mpn-driver-mutations/), [MYD88 L265P and CXCR4 mutations](https://onco.cc/terms/myd88-l265p/), [POLE ultramutation (POLEmut)](https://onco.cc/terms/pole-ultramutation/), [PTEN loss](https://onco.cc/terms/pten-loss/), [SF3B1 mutation](https://onco.cc/terms/sf3b1-mutation/)
- biomarkers: [BCL2 G101V and the other venetoclax binding-site mutations](https://onco.cc/biomarkers/bcl2-g101v/), [BRAF V600E (and V600K)](https://onco.cc/biomarkers/braf-v600e/), [BTK resistance mutations: C481S, and L528W and T474I after the non-covalent inhibitors](https://onco.cc/biomarkers/btk-c481s/), [CD79B ITAM mutation](https://onco.cc/biomarkers/cd79b-itam-mutation/), [EGFR exon 19 deletion](https://onco.cc/biomarkers/egfr-exon-19-deletion/), [EGFR exon 20 insertion](https://onco.cc/biomarkers/egfr-exon-20-insertion/), [EZH2 gain-of-function mutation (Tyr646, originally Tyr641)](https://onco.cc/biomarkers/ezh2-y646-mutation/), [HER2 (ERBB2) activating mutation](https://onco.cc/biomarkers/her2-mutation/), [IDH1 R132 mutation](https://onco.cc/biomarkers/idh1-r132/), [IDH2 mutation (R140 and R172)](https://onco.cc/biomarkers/idh2-mutation/), [Immunoglobulin and T-cell receptor clonality](https://onco.cc/biomarkers/ig-tcr-clonality/), [KRAS G12C](https://onco.cc/biomarkers/kras-g12c/), [MET exon 14 skipping mutation](https://onco.cc/biomarkers/met-ex14/), [MSI-high (microsatellite instability by PCR or sequencing)](https://onco.cc/biomarkers/msi-high/), [PIK3CA mutation](https://onco.cc/biomarkers/pik3ca-hotspot-mutation/), [RAS wild-type (extended KRAS and NRAS testing)](https://onco.cc/biomarkers/ras-wild-type/), [RHOA G17V](https://onco.cc/biomarkers/rhoa-g17v/), [TMB-high (tumour mutational burden >= 10 mutations per megabase)](https://onco.cc/biomarkers/tmb-high/), [Tumour (somatic or germline) BRCA1/2 mutation and HRR gene alterations](https://onco.cc/biomarkers/brca-somatic/)
- roadmaps: [Lymphoma roadmap: from a jaw tumour in Uganda and the first human cancer virus to gene-expression subtypes, PET-adapted chemotherapy, CAR-T cells, bispecific antibodies and the genetics-directed trials now recruiting](https://onco.cc/roadmaps/lymphoma-roadmap/)
- bottlenecks: [Data silos](https://onco.cc/bottlenecks/b-data-silos/)
- trials: [ALASCCA](https://onco.cc/trials/alascca/)
- drugs: [MI Cancer Seek](https://onco.cc/drugs/caris-mi-cancer-seek/), [Oncomine Dx Target Test](https://onco.cc/drugs/oncomine-dx-target-test/), [Tempus xT CDx](https://onco.cc/drugs/tempus-xt-cdx/), [TruSight Oncology Comprehensive](https://onco.cc/drugs/trusight-oncology-comprehensive/)
- institutions: [Deutsches Netzwerk für Personalisierte Medizin](https://onco.cc/institutions/dnpm/), [nationales Netzwerk Genomische Medizin Lungenkrebs](https://onco.cc/institutions/nngm/)

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JSON: https://onco.cc/api/v1/entities/ngs.json