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Reading millions of DNA fragments in parallel, the engine behind every modern genomic test.
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.
Showing the technology this term belongs to: Comprehensive genomic profiling.
The glossary entry explains the word; the readout page carries the scoring rule, the thresholds approvals use, the companion diagnostics and the tests.
Targeted therapy prevalence estimates from one country may not hold in another, so a UK cohort, with its own ancestry mix, would need its own molecular survey before assuming HER2 or other rates from Asian or Latin American series.
The piece that turns a research classification into something a trial can use on one person's biopsy, with a probability attached rather than a flat label. It is the reason genetics-directed lymphoma trials became possible at all.
A rare driver with a real drug, and a warning about biomarker thresholds: the same gene, tested the same way, predicts response or does not depending on a copy-number cut-off that has to be measured rather than assumed.
One collection page on OnCo cites this paper by its DOI; this record gives the citation a page of its own so a reader can follow it without leaving OnCo. Read the abstract above alongside the citing page listed under Related; the record was created automatically from the Europe PMC entry and its figures have not been checked by hand.
It showed the benefit of plasma testing is not only analytical but logistical: it reaches patients who are too unwell, or whose disease is too inaccessible, for a repeat biopsy.
It is the evidence behind running plasma and tissue together at diagnosis rather than in sequence, and the 80% sensitivity figure is the reason a negative plasma result never ends the work-up.
What a prostate cancer sequencing report looks like in practice, and the numerical basis for two clinical rules: do not expect checkpoint immunotherapy to work unless the tumour is mismatch repair deficient, and do not treat a CDK12 alteration as if it were a BRCA alteration.
It fixed the working numbers for a comprehensive panel in pancreatic cancer: a hit worth acting on in about one patient in six, most of it in repair genes and the KRAS wild-type minority.
Shares Pathologists order genomic profiling automatically at diagnosis of advanced cancer, Overall survival in patients with pancreatic cancer receiving matched therapies following molecular profiling: a retrospective analysis of the Know Your Tumor registry trial, MET exon 14 skipping mutation, PIK3CA mutation.
Shares Label every targetable mutation as truncal or branch on the report, Public gold-standard datasets for validating every cancer biomarker test, A single calibrated tumour mutational burden across all sequencing panels, Pathologists order genomic profiling automatically at diagnosis of advanced cancer.
Shares RHOA G17V, Capmatinib in MET exon 14-mutated or MET-amplified non-small-cell lung cancer, EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy, Prospective comprehensive molecular characterization of lung adenocarcinomas for efficient patient matching to approved and emerging therapies.
Shares Label every targetable mutation as truncal or branch on the report, Punctuated evolution of prostate cancer genomes, Chromoplexy, Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution.
Shares A single calibrated tumour mutational burden across all sequencing panels, Chromoplexy, POLE ultramutation (POLEmut), TruSight Oncology Comprehensive.
Shares Punctuated evolution of prostate cancer genomes, Chromoplexy, Integrative genomic profiling of human prostate cancer, Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer.
Shares CD79B ITAM mutation, Assign first-line treatment in diffuse large B-cell lymphoma by genetic subtype, not by a three-antibody stain, Distinct biological subtypes and patterns of genome evolution in lymphoma revealed by circulating tumour DNA, Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes.
Shares 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, Capmatinib in MET exon 14-mutated or MET-amplified non-small-cell lung cancer, Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution, Make resistance a diagnosis: sequence at every progression and choose the next line from what the tumour became.