ArticleNature communications2022
Automated next-generation profiling of genomic alterations in human cancers.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- ctDNA response after pembrolizumab in non-small cell lung cancer: phase 2 adaptive trial results.Nature medicine · 2023Trial
- Biomarker-directed, pembrolizumab-based combination therapy in non-small cell lung cancer: phase 2 KEYNOTE-495/KeyImPaCT trial interim results.Nature medicine · 2023Trial
- SEOM‑GETTHI clinical guideline for the practical management of molecular platforms (update 2026).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- The impact of next generation sequencing studies on the diagnosis of BAP1 inactivated melanocytic tumors.Human pathology · 2026Article
- OncoRisk: a state-of-the-art web server for bridging the oncogenic databases and pan-cancer cohorts to the translational oncology.Communications biology · 2026Article
- Shaping Precision Medicine: The Journey of Sequencing Technologies Across Human Solid Tumors.Biomedicines · 2025Review
- Article
- Detection of Brain Cancer Using Genome-wide Cell-free DNA Fragmentomes.Cancer discovery · 2025Article
- Tumor diagnosis recharacterization enabled by comprehensive genomic profiling to guide precision medicine strategy.NPJ precision oncology · 2025Article
- Detection of RAS p.Q61R by Immunohistochemistry in Practice: A Clinicopathologic Study of 217 Thyroid Nodules with Molecular Correlates.Endocrine pathology · 2024Article
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Comprehensive NGS profiling to enable detection ofFrontiers in oncology · 2023Article
- Translating the evolving molecular landscape of tumors to biomarkers of response for cancer immunotherapy.Science translational medicine · 2022Review
- Automated next-generation profiling of genomic alterations in human cancers.Nature communications · 2022Article
Corrections and comments
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Authors and funding
28 authors at 5 institutions in 1 country.
Funding
Abstract
The lack of validated, distributed comprehensive genomic profiling assays for patients with cancer inhibits access to precision oncology treatment. To address this, we describe elio tissue complete, which has been FDA-cleared for examination of 505 cancer-related genes. Independent analyses of clinically and biologically relevant sequence changes across 170 clinical tumor samples using MSK-IMPACT, FoundationOne, and PCR-based methods reveals a positive percent agreement of >97%. We observe high concordance with whole-exome sequencing for evaluation of tumor mutational burden for 307 solid tumors (Pearson r = 0.95) and comparison of the elio tissue complete microsatellite instability detection approach with an independent PCR assay for 223 samples displays a positive percent agreement of 99%. Finally, evaluation of amplifications and translocations against DNA- and RNA-based approaches exhibits >98% negative percent agreement and positive percent agreement of 86% and 82%, respectively. These methods provide an approach for pan-solid tumor comprehensive genomic profiling with high analytical performance.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.