Publications
Discover the latest research outputs from the GenomeMET project, contributing to advancements in genomic profiling for cancer care. Our publications, ranging from peer-reviewed articles to conference presentations, are central to our mission of enhancing diagnostic accuracy and supporting precision medicine.
Links to our Publications
Article
July 2026; Methods.
New candidate reference measurement procedures for NRAS p.Q61R quantification by digital PCR.
Petiti J, Caria S, Revel L, Bogožalec Košir A, Carrà G, Fava M, Weiss N, Kremser M, Gillmeister M, Vierbaum L, Kaufmann-Stoeck A, Schmitz A, Milavec M and Divieto C.
doi.org/10.1016/j.ymeth.2026.07.005.
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Poster
June 2026, presented at the "BIOTECH2026 - Frontiers in Italian Biotechnology" (Verona, IT )
CTCs Mutational Profiling via PARSORTIX® and ddPCR: Towards Reference Material Development.
Schiavon A, Perrelli M-G, Petiti J, Longo C, Terzolo M, Giachino C and Lo Iacono M.
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Poster
June 2026, presented at the "EACR Congress 2026: Innovative Cancer Science" (Budapest, HU )
Metrologically traceable quantification of NRAS p.Q61R by digital PCR.
Petiti J, Caria S, Revel L, Bogožalec Košir A, Fava M, Kremser M, Schmitz A, Kaufmann-Stoeck A, Milavec M, Divieto C.
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Article
January 2026; Biological Procedures Online.
New candidate Reference Measurement Procedures for MET CNV detection and quantification using digital PCR.
Petiti J, Caria S, Revel L, Fava M, Carrà G, Albano R, Gilardi S, Venesio T and Divieto C.
doi.org/10.1186/s12575-026-00325-5.
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Oral presentation
November 2025, presented at "IFCC Commitee on Molecular Diagnostics (C-MDO) sponsored 3rd International Forum on Clinical Molecular Diagnostics" (Nanjing, CN and virtual)
Standards and metrology to support cancer genomic profiling.
Foy Carole
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Oral presentation
October 2025, presented at the 47th conference ISOBM (Murnau, DE)
1. The GenomeMET project: approches for standardization of liquid biopsy and genomic profiling methods.
Devonshire Alison
2. Ensuring accurate patient results for cancer patients - EQA for liquid biopsy testing.
Fairley Jenny and Moon Fiona
3. Results from a pilot EQA for liquid biopsy testing in Germany.
Kremser Marcel
Click to view Presentation 1, Presentation 2 & Presentation 3
Poster
October 2025, presented at the 47th conference ISOBM (Murnau, DE)
1. Optimization and Validation of digital PCR Assays for Clinical ctDNA Testing.
Mayer Z, Polatoglou E, Kratel A, Burglechner-Praun S, Bronkhorst A, Oberhofer A, Uhlig S, Holdenrieder S.
2. KRAS and PIK3CA Evaluation in Sens-ID cfDNA Reference Materials during the International GenomeMET Precommutability Study.
Bronkhorst A, Oberhofer A, Polatoglou E, Worf K, Mayer Z, Kremser M, Kaufmann-Stoeck A, Vierbaum L, Weiss N, Holdenrieder S.
3. Validation of targeted NGS-based ctDNA assays: Key considerations and pitfalls in clinical implementation.
Oberhofer A, Worf K, Mayer Z, Polatoglou E, Bronkhorst A J, Uhlig C, Colson B, Hettwer K, Uhlig S, Holdenrieder S.
Article
October 2025; Cells, 14, 1544.
Multiplex digital PCR reference gene measurement for genomic and cell-free DNA analysis.
Yener D, Busby EJ, Vandesompele J, Wils G, Ricman SD, Wood HM, Huggett JF, Foy CA and Dovonshire AS.
doi: 10.3390/cells14191544.
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Poster
March 2025, presented at the conference "Medicina di precisione e personalizzata" (Torino, IT)
GenomeMET project: establishing high-accuracy ddPCR reference methods for cancer genomic profiling.
Petiti J, Fava M, Revel L, Caria S, and Divieto C
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Poster
November 2024, presented at the International Society of Liquid Biopsy conference (Denver, USA)
1. Novel Primary Reference Materials to Support Standardisation in Liquid Biopsy.
Lo Cascio L, Ossai N, Hawkins M
2. Assessing the performance of cfDNA extraction from plasma.
Deans Z, Fairley J, Nahlik K, Jamindar S and Moon F
Poster
Accurately assessing the quality and quantity of cfDNA extractions.
Moon F, Fairley JA, Jamindar S, Nahlik K, Deans ZC.
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September 2024, presented at the European Congress of Pathology conference (Firenze, Italy)
Poster
May 2024, presented at the Europe Biobank Week 2024 conference (Vienna, AUST)
GenomeMET: Metrology for genomic profiling to support early cancer detection and precision medicine
Stumptner C, Abuja P M, Hardt M, Panzitt K , Divieto C , Devonshire A , Foy C , Valiente M , and other GenomeMET consortium members
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Article
December 2023; Med Genet. 35(4):201-235.
The changing face of circulating tumor DNA (ctDNA) profiling: Factors that shape the landscape of methodologies, technologies, and commercialization.
Bronkhorst AJ, Holdenrieder S.
doi: 10.1515/medgen-2023-2065. PMID: 38835739; PMCID: PMC11006350.
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