METHODOLOGY COMPARED

 

The science behind what you can detect.


Peer-reviewed papers, case studies and white papers, framed around what the data means for your trial, your laboratory and your patients. Read the overview, then go straight to the source.

31 publications
Sorted by: newest first
Peer-reviewed Free to read 2025

Patient-specific sequencing panels enable sensitive circulating tumor DNA analysis in rhabdomyosarcoma independent of genetic profile

Shows that patient-specific (tumour-informed) panels enable sensitive ctDNA detection in rhabdomyosarcoma regardless of the tumour's genetic profile.

Rahmqvist I, Dahlstrand Rudin A, Mellstrom E, Ibrahim RR, Andersson D, Pujol Calderon F, Ordqvist Redfors A, Rostamzadeh N, Franssila W, Karlsson C, Zetterlund F, Khashan R, Frostdahl H, Osterlund T, Ek T, Fagman H, Stahlberg A, Dalin M. Patient-specific sequencing panels enable sensitive circulating tumor DNA analysis in rhabdomyosarcoma independent of genetic profile. [Journal and year to confirm]. doi:10.1038/s41698-025-01147-6

Peer-reviewed Free to read 2025

Digital sequencing is improved by using structured unique molecular identifiers

Demonstrates that structured unique molecular identifiers improve the accuracy of digital sequencing.

Micallef P, Luna Santamaria M, Escobar M, Andersson D, Osterlund T, Mouhanna P, Filges S, Johansson G, Fagman H, Vannas C, Stahlberg A. Digital sequencing is improved by using structured unique molecular identifiers. [Journal and year to confirm]. https://doi.org/10.1038/s41698-025-01147-6

Peer-reviewed Free to read 2025

Evaluation of automatic cell free DNA extraction metrics using different blood collection tubes

Compares blood collection tubes for their effect on automated cell-free DNA extraction metrics.

Andersson D, Kristiansson H, Luna Santamaria M, Zafar H, Mijakovic I, Torinsson Naluai A, Stahlberg A. Evaluation of automatic cell free DNA extraction metrics using different blood collection tubes. [Journal and year to confirm]. doi:10.1038/s41598-025-03508-4

Peer-reviewed Free to read 2024

Integration of personalised ultrasensitive ctDNA monitoring of patients with metastatic breast cancer to reduce imaging requirements

Shows personalised ultrasensitive ctDNA monitoring can reduce imaging needs in metastatic breast cancer.

Mouhanna P, Stahlberg A, Andersson D, Albu-Kareem A, Elinder E, Eriksson O, Kavanagh A, Kovacs A, Larsson KF, Linderholm B, Uminska M, Osterlund T, Howell SJ, Ekholm M. Integration of personalised ultrasensitive ctDNA monitoring of patients with metastatic breast cancer to reduce imaging requirements. Int J Cancer. 2024. doi:10.1002/ijc.35292

Peer-reviewed Free to read 2024

Principles of digital sequencing using unique molecular identifiers

Review of the principles behind digital sequencing with unique molecular identifiers.

Andersson D, Kebede FT, Escobar M, Osterlund T, Stahlberg A. Principles of digital sequencing using unique molecular identifiers. Mol Aspects Med. 2024. doi:10.1016/j.mam.2024.101253

Peer-reviewed Free to read 2024

Personalized circulating tumor DNA analysis for sensitive disease monitoring and detection of relapse in neuroblastoma

Personalised ctDNA analysis detects relapse and monitors disease in neuroblastoma.

Rahmqvist I, Engstrom E, Mellstrom E, Ibrahim R, Pujol Calderon F, Dahlstrand Rudin A, Ordqvist Redfors A, Rostamzadeh N, DiRienzo R, Franssila W, Khashan R, Xylander M, Karlsson C, Ek T, Andersson D, Osterlund T, Gaarder J, Fagman H, Fransson S, Martinsson T, Stahlberg A, Dalin M. Personalized circulating tumor DNA analysis for sensitive disease monitoring and detection of relapse in neuroblastoma. Biomark Res. 2024. doi:10.1186/s40364-024-00688-5

Peer-reviewed Free to read 2024

Mechanistic basis of atypical TERT promoter mutations

Explains the mechanism behind atypical TERT promoter mutations.

Elliott K, Kumar Singh V, Backerholm A, Ogren L, Lindberg M, Soczek KM, Hoberg E, Luijts T, van den Eynden J, Falkenberg M, Doudna J, Stahlberg A, Larsson E. Mechanistic basis of atypical TERT promoter mutations. Nat Commun. 2024. doi:10.1038/s41467-024-54158-5

Peer-reviewed Free to read 2024

Long-Lasting Response to Lorlatinib in Patients with ALK-Driven Relapsed or Refractory Neuroblastoma Monitored with Circulating Tumor DNA Analysis

ALK-driven relapsed/refractory neuroblastoma patients had long-lasting responses to lorlatinib, tracked by ctDNA.

Ek T, Ibrahim RR, Vogt H, Georgantzi K, Trager C, Gaarder J, Djos A, Rahmqvist I, Mellstrom E, Pujol-Calderon F, Vannas C, Hansson L, Fagman H, Treis D, Fransson S, Osterlund T, Chuang TP, Verhoeven BM, Stahlberg A, Palmer RH, Hallberg B, Martinsson T, Kogner P, Dalin M. Long-lasting response to lorlatinib in patients with ALK-driven relapsed or refractory neuroblastoma monitored with circulating tumour DNA analysis. Cancer Res Commun. 2024;4(9):2553-2564. doi:10.1158/2767-9764.CRC-24-0338

Peer-reviewed Free to read 2024

gamma-delta T cells in human colon adenocarcinomas comprise mainly Vd1, Vd2, and Vd3 cells with distinct phenotype and function

Characterises gamma-delta T-cell subsets in human colon adenocarcinomas.

Rodin W, Szeponik L, Rangelova T, Tamiru Kebede F, Osterlund T, Sundstrom P, Hogg S, Wettergren Y, Cosma A, Stahlberg A, Bexe Lindskog E, Quiding Jarbrink M. gamma-delta T cells in human colon adenocarcinomas comprise mainly Vd1, Vd2, and Vd3 cells with distinct phenotype and function. Cancer Immunol Immunother. 2024. doi:10.1007/s00262-024-03758-7

Peer-reviewed Free to read 2024

Treatment monitoring of a patient with synchronous metastatic angiosarcoma and breast cancer using ctDNA

Case report: ctDNA used to monitor treatment in a patient with synchronous angiosarcoma and breast cancer.

Vannas C, Escobar M, Osterlund T, Andersson D, Mouhanna P, Soomagi A, Molin C, Wennergren D, Fagman H, Stahlberg A. Treatment monitoring of a patient with synchronous metastatic angiosarcoma and breast cancer using ctDNA. Int J Mol Sci. 2024. doi:10.3390/ijms25074023

Peer-reviewed Free to read 2024

Ultrasensitive sequencing of STR markers utilizing unique molecular identifiers and the SiMSen-Seq

Applies SiMSen-Seq and UMIs to ultrasensitive forensic STR marker sequencing.

Sidstedt M, Gynna AH, Kiesler KM, Jansson L, Steffen CR, Hakansson J, Johansson G, Osterlund T, Bogestal Y, Tillmar A, Radstrom P, Stahlberg A, Vallone PM, Hedman J. Ultrasensitive sequencing of STR markers utilizing unique molecular identifiers and the SiMSen-Seq. Forensic Sci Int Genet. 2024. doi:10.1016/j.fsigen.2024.103047

Peer-reviewed Free to read 2024

Digital RNA sequencing using unique molecular identifiers enables ultrasensitive RNA mutation analysis

Extends UMI-based digital sequencing to ultrasensitive RNA mutation analysis.

Luna Santamaria M, Andersson D, Parris TZ, Helou K, Osterlund T, Stahlberg A. Digital RNA sequencing using unique molecular identifiers enables ultrasensitive RNA mutation analysis. Commun Biol. 2024. doi:10.1038/s42003-024-05955-7

Peer-reviewed Free to read 2023

Tissue specificity of oncogenic BRAF targeted to lung and thyroid through a shared lineage factor

Cancer-biology study of how oncogenic BRAF drives lung and thyroid tumours via a shared lineage factor.

Schoultz E, Liang S, Carlsson T, Filges S, Stahlberg A, Fagman H, Wiel C, Sayin V, Nilsson M. Tissue specificity of oncogenic BRAF targeted to lung and thyroid through a shared lineage factor. iScience. 2023. doi:10.1016/j.isci.2023.107071

Peer-reviewed Free to read 2022

Extracellular vesicle DNA from human melanoma tissues contains cancer-specific mutations

Finds cancer-specific mutations in extracellular-vesicle DNA from melanoma tissue.

Crescitelli R, Filges S, Karimi N, Urzi O, Alonso-Agudo T, Stahlberg A, Lotvall J, Lasser C, Olofsson Bagge R. Extracellular vesicle DNA from human melanoma tissues contains cancer-specific mutations. Front Cell Dev Biol. 2022. doi:10.3389/fcell.2022.1028854

Peer-reviewed Free to read 2022

Persistence of ctDNA in Patients with Breast Cancer During Neoadjuvant Treatment Is a Significant Predictor of Poor Tumor Response

ctDNA persistence during neoadjuvant treatment predicts poor tumour response in breast cancer.

Zhou Q, et al. Persistence of ctDNA in patients with breast cancer during neoadjuvant treatment is a significant predictor of poor tumor response. Clin Cancer Res. 2022. doi:10.1158/1078-0432.CCR-21-3231

Peer-reviewed Free to read 2022

UMIErrorCorrect and UMIAnalyzer: Software for Consensus Read Generation, Error Correction, and Visualization Using Unique Molecular Identifiers

Introduces the UMIErrorCorrect and UMIAnalyzer software for UMI-based sequencing analysis.

Osterlund T, Filges S, Johansson G, Stahlberg A. UMIErrorCorrect and UMIAnalyzer: software for consensus read generation, error correction, and visualization using unique molecular identifiers. Clin Chem. 2022. doi:10.1093/clinchem/hvac136

Peer-reviewed Free to read 2021

Digital quantification of chemical oligonucleotide synthesis errors

Uses digital sequencing to quantify errors introduced during chemical oligonucleotide synthesis.

Filges S, Mouhanna P, Stahlberg A. Digital quantification of chemical oligonucleotide synthesis errors. Clin Chem. 2021. doi:10.1093/clinchem/hvab136

Peer-reviewed Free to read 2021

Monitoring Circulating Tumor DNA During Surgical Treatment in Patients with Gastrointestinal Stromal Tumors

Monitors ctDNA during surgery in gastrointestinal stromal tumours (GIST).

Johansson G, Berndsen M, Lindskog S, Osterlund T, Fagman H, Muth A, Stahlberg A. Monitoring circulating tumor DNA during surgical treatment in patients with gastrointestinal stromal tumors. Mol Cancer Ther. 2021. doi:10.1158/1535-7163.MCT-21-0403

Peer-reviewed Free to read 2021

The PEMDAC phase 2 study of pembrolizumab and entinostat in patients with metastatic uveal melanoma

Phase 2 PEMDAC trial of pembrolizumab plus entinostat in metastatic uveal melanoma.

Ny L, Jespersen H, Karlsson J, Alsen S, Filges S, All-Eriksson C, Andersson B, Carneiro A, Helgadottir H, Levin M, et al. The PEMDAC phase 2 study of pembrolizumab and entinostat in patients with metastatic uveal melanoma. Nat Commun. 2021. doi:10.1038/s41467-021-25332-w

Peer-reviewed Free to read 2020

Dynamic ctDNA evaluation of a patient with BRAFV600E metastatic melanoma demonstrates the utility of ctDNA for disease monitoring and tumor clonality analysis

Case study using dynamic ctDNA to monitor BRAFV600E metastatic melanoma and analyse clonality.

Vannas C, Bjursten S, Filges S, Fagman H, Stahlberg A, Levin M. Dynamic ctDNA evaluation of a patient with BRAFV600E metastatic melanoma demonstrates the utility of ctDNA for disease monitoring and tumor clonality analysis. Acta Oncol. 2020. doi:10.1080/0284186X.2020.1802064

Peer-reviewed Free to read 2020

Ultrasensitive DNA Immune Repertoire Sequencing Using Unique Molecular Identifiers

Applies UMIs to ultrasensitive DNA immune-repertoire sequencing.

Johansson G, Kaltak M, Rimniceanu C, Singh AK, Lycke J, Malmestrom C, Huhn M, Vaarala O, Cardell S, Stahlberg A. Ultrasensitive DNA immune repertoire sequencing using unique molecular identifiers. [Journal and year to confirm]. doi:10.1093/clinchem/hvaa159

Peer-reviewed Free to read 2019

Response to BRAF/MEK inhibition in A598_T599insV BRAF mutated melanoma

Case report of response to BRAF/MEK inhibition in a rare BRAF-insertion melanoma.

Bjursten S, Vannas C, Filges S, Puls F, Pandita A, Fagman H, Stahlberg A, Levin M. Response to BRAF/MEK inhibition in A598_T599insV BRAF mutated melanoma. Case Rep Oncol. 2020. doi:10.1159/000504291

Peer-reviewed Free to read 2019

Multilaboratory assessment of a new reference material for quality assurance of cell-free tumor DNA measurements

Multilaboratory validation of a new reference material for cell-free tumour DNA quality assurance.

He HJ, Stein EV, Konigshofer Y, Forbes T, Tomson FL, Garlick R, Yamada E, Godfrey T, Abe T, Tamura K, et al. Multilaboratory assessment of a new reference material for quality assurance of cell-free tumor DNA measurements. J Mol Diagn. 2019. doi:10.1016/j.jmoldx.2019.03.006

Peer-reviewed Free to read 2019

Detection of circulating tumor DNA in plasma: a potential biomarker for esophageal adenocarcinoma

ctDNA in plasma as a potential biomarker for esophageal adenocarcinoma.

Egyud M, Tejani M, Pennathur A, Luketich J, Sridhar P, Yamada E, Stahlberg A, Filges S, Krzyzanowski P, Jackson J, et al. Detection of circulating tumor DNA in plasma: a potential biomarker for esophageal adenocarcinoma. Ann Thorac Surg. 2019. doi:10.1016/j.athoracsur.2019.04.004

Peer-reviewed Free to read 2019

Impact of polymerase fidelity on background error rates in next-generation sequencing with unique molecular identifiers/barcodes

Assesses how polymerase fidelity affects background error rates in UMI/barcode sequencing.

Filges S, Yamada E, Stahlberg A, Godfrey T. Impact of polymerase fidelity on background error rates in next-generation sequencing with unique molecular identifiers/barcodes. Sci Rep. 2019. doi:10.1038/s41598-019-39762-6

Peer-reviewed Free to read 2019

Considerations and quality controls when analyzing cell-free tumor DNA

Practical considerations and quality controls for cell-free tumour DNA analysis.

Johansson G, Andersson D, Filges S, Li J, Muth A, Godfrey TE, Stahlberg A. Considerations and quality controls when analyzing cell-free tumor DNA. Biomol Detect Quantif. 2019. doi:10.1016/j.bdq.2018.12.003

Peer-reviewed Free to read 2019

Plasma circulating tumor DNA as a potential tool for disease monitoring in head and neck cancer

Plasma ctDNA as a disease-monitoring tool in head and neck cancer.

Egyud M, Sridhar P, Devaiah A, Yamada E, Saunders S, Stahlberg A, Filges S, Krzyzanowski P, Kalatskaya I, Jiao W, et al. Plasma circulating tumor DNA as a potential tool for disease monitoring in head and neck cancer. Head Neck. 2019. doi:10.1002/hed.25563

Peer-reviewed Free to read 2018

Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers

Links elevated pyrimidine-dimer formation to promoter mutation hotspots in UV-exposed cancers.

Elliott K, Bostrom M, Filges S, Lindberg M, Van den Eynden J, Stahlberg A, Clausen AR, Larsson E. Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers. PLoS Genet. 2018. doi:10.1371/journal.pgen.1007849

Peer-reviewed Free to read 2017

Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature

Defines a context-specific mutational signature behind recurrent promoter mutations in melanoma.

Fredriksson NJ, Elliott K, Filges S, Van den Eynden J, Stahlberg A, Larsson E. Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature. PLoS Genet. 2017. doi:10.1371/journal.pgen.1006773

Peer-reviewed Free to read 2017

Simple multiplexed PCR-based barcoding of DNA for ultrasensitive mutation detection by next-generation sequencing

The foundational SiMSen-Seq method: multiplexed PCR barcoding for ultrasensitive mutation detection.

Stahlberg A, Krzyzanowski PM, Egyud M, Filges S, Stein L, Godfrey T. Simple multiplexed PCR-based barcoding of DNA for ultrasensitive mutation detection by next-generation sequencing. Nat Protoc. 2017;12(4):664-682. doi:10.1038/nprot.2017.006

Peer-reviewed Free to read 2016

Simple, multiplexed, PCR-based barcoding of DNA enables sensitive mutation detection in liquid biopsies using sequencing

Earlier SiMSen-Seq method paper: multiplexed PCR barcoding for sensitive mutation detection in liquid biopsies.

Stahlberg A, Krzyzanowski PM, Jackson JB, Egyud M, Stein L, Godfrey TE. Simple, multiplexed, PCR-based barcoding of DNA enables sensitive mutation detection in liquid biopsies using sequencing. Nucleic Acids Res. 2016. doi:10.1093/nar/gkw224

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