Assessment of a Simplified Cell-Free DNA Method for Prenatal Down Syndrome Screening

Authors: Palomaki G, Eklund E, Kloza E et al. (2022 - Clinical Chemistry)

Assessment and clinical utility of a non-next-generation sequencing-based non-invasive prenatal testing technology

Authors: Gormus U, Chaubey A, Shenoy S et al. (2021 - MDPI)

Imaging single DNA molecules for high precision NIPT

Authors: Dahl F, Ericsson O, Karlberg O, Karlsson F, Howell M, Persson F, Roos F, Stenberg J, Ahola T, Alftren I, Andersson B, Barkenas E, Brandner B, Dahlberg J, Elfman S, Eriksson M, Forsgren P, Francois N, Gousseva A, Hakamali F, Janfalk-Carlsson A, Johansson H, Lundgren J, Mohsenchian A, Olausson L, Olofsson S, Qureshi A, Skarpas B, Savneby A, Astrom E, Ohman O, Westgren M, Kopp-Kallner H, Fianu-Johansson A, Syngelaki A, Nicolaides K (2018 - Scientific Reports)

Desarrollo del primer ensayo prenatal no invasivo (NIPT) en Argentina

Authors: Vazquez M, Brun B, Grisolia M et al. (2017 - Conicet Digital)

Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally

Authors: Becking E, Linsthorst J, Patton S, Gutowska-Ding W, Goodall R, Khawaja F, Morgan F, Deans Z, Chitty L, Bekker M, Scheffer P, Sistermans E (2023 - Clinical Chemistry)

Synthesis of positive plasmas with known chromosomal abnormalities for validation of non-invasive prenatal screening

Authors: Qi Z, Yu J (2023 - Frontiers in Genetics)

NIPT & Oncology 2-1

Rapid gene fusion testing using the NanoString nCounter platform to improve pediatric leukemia diagnoses in Sub-Saharan Africa

Authors: Gastier-Foster J, Lutwama F, Mbabazi O, Mlenga S, Ulaya K, Namazzi R, Hollingsworth F, Lopez-Terrada D, Fisher K, Roy A, Allen C, Poplack D, Mzikamanda R, Ozuah N, Wasswa P (2024- Frontiers in Oncology)

Clinical validation of the Ion Torrent Oncomine Myeloid Assay GX v2 on the Genexus Integrated Sequencer as a stand-alone assay for single-nucleotide variants, insertions/deletions, and fusion genes: Challenges, performance, and perspectives

Authors: Krishnamurthy K, Chai J, Liu X, Wang Y, Naeem R, Goldstein D (2024 - American Journal of Clinical Pathology)

Analytical validation of an automated semiconductor-based next-generation sequencing assay for detection of DNA and RNA alterations in myeloid neoplasms

Authors: Zbieranski, Nora, Insuasti-Beltran, Giovanni (2023 - Journal of Molecular Diagnostics)

Detection of Hybrid Fusion Transcripts, Aberrant Transcript Expression and Specific Single Nucleotide Variants in Acute Leukemia and Myeloid Disorders with Recurrent Gene Rearrangements.

Authors: Li Y, Deng K, Kaner J, Geyer J, Ouseph M, Fang F, Xu K, Roboz G, Kluk M (2023 - Karger)

Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms

Authors: Sande C, Wu R, Yang G, Sussman R, Bigdeli A, Rushton C, Chitturi A, Patel J, Szankasi P, Morrissette J, Lim M, Elenitoba-Johnson K (2023 - Journal of Molecular Diagnostics)

Validation of a Cell-Free DNA NGS Assay for Hematological Malignancies

Authors: Gedvilaite E, DiNapoli S, Spence C, Diosdado M, Razamova A, Bowman A, Tsui D, Salles G, Batlevi C, von Keudell G, Ptashkin R, Zehir A, Benayed R, Berger M, Brannon A, Arcila M (2022 - Blood)

Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel

Authors: Tan J, Chow Y, Zainul Abidin N, Chang K, Selvaratnam V, Tumian N, Poh Y, Veerakumarasivam A, Laffan M, Wong C (2022 - BMC Medical Genomics)

Validation, Implementation, and Clinical Impact of the Oncomine Myeloid Targeted-Amplicon DNA and RNA Ion Semiconductor Sequencing Assay

Authors: Ferrone C, Wong H, Semenuk L, Werunga B, Snetsinger B, Zhang X, Zhang G, Lui J, Richard-Carpentier G, Crocker S, Good D, Hay A, Quest G, Carson N, Feilotter H, Rauh M (2021 - The Journal of Molecular Diagnostics)

A Novel NGS-Based Simultaneous Detection of DNA and RNA Biomarkers Using Total Nucleic Acid (TNA) for Acute Lymphocytic Leukemia (ALL)

Authors: Ramesh A, Koo S, Kang S, Ghosal A, Alarcon F, Gyuris T, Jung S, Magnan C, Nam H, Thomas B, Fabunan R, Petersen P, Lopez-Diaz F, Bender R, Agersborg S, Ye F, Funari V (2021 - Blood)

Clinical performance and utility of a comprehensive next-generation sequencing DNA panel for the simultaneous analysis of variants, TMB and MSI for myeloid neoplasms

Authors: Sahajpal N, Mondal A, Ananth S, Njau A, Ahluwalia P, Jones K, Ahluwalia M, Okechukwu N, Savage N, Kota V, Rojiani A, Kolhe R (2020 - Plos One)

Feasibility of Combined Detection of Gene Mutations and Fusion Transcripts in Bone Marrow Trephines from Leukemic Neoplasms

Authors: Bartel S, Hasemeier B, Vogtmann J, Schipper E, Busche G, Schlue J, Kreipe H, Lehmann U (2020 - The Journal of Molecular Diagnostics)

Mutation analysis in Korean patients with T-cell acute lymphoblastic leukemia

Authors: Park K, Kim I, Yang E, Lim Y, Cho S (2020 - Taylor & Francis Online)

Clinical Validation of a Myeloid Next-Generation Sequencing Panel for Single-Nucleotide Variants, Insertions/Deletions, and Fusion Genes

Authors: Izevbaye I, Liang L, Mather C, El-Hallani S, Maglantay R, Saini L (2020 - The Journal of Molecular Diagnostics)

Microsatellite Instability Detection in Cancer: A Multiplex qPCR Approach that Obviates the Need for Matching Normal Samples

Authors: Chen W, Yan H, Young B, Pinto A, Jiang Q, Song N, Yaseen A, Yao W, Zhang D, Zhang J (2024 - Clinical Chemistry)

Development and validation of blood tumor mutational burden reference standards

Authors: Raiber-Moreau E, Portella G, Butler M, Clement O, Konigshofer Y, Hadfield J (2023 - Wiley Online Library)

External quality assessment (EQA) for tumor mutational burden: results of an international IQN path feasibility pilot scheme

Authors: Esposito Abante R, Cheetham M, Fairley J, Pasquale R, Sacco A, Nicola W, Dean Z, Patton S, Normanno N (2022 - Springer Link)

Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project

Authors: Vega D, Yee L, McShane L, Williams P, Chen L, Vilimas T, Fabrizio D, Funari V, Newberg J, Bruce L, Chen S, Baden J, Carl Barrett J, Beer P, Butler M, Cheng J, Conroy J, Cyanam D, Eyring K, Garcia E, Green G, Gregersen V, Hellmann M, Keefer L, Lasiter L, Lazar A, Li M, MacConaill L, Meier K, Mellert H, Pabla S, Pallavajjalla A, Pestano G, Salgado R, Samara R, Sokol E, Stafford P, Budczies J, Stenzinger A, Tom W, Valkenburg K, Wang X, Weigman V, Xie M, Xie Q, Zehir A, Zhao C, Zhao Y, Stewart M, Allen J (2021 - Annals of Oncology)

Paired analysis of tumor mutation burden calculated by targeted deep sequencing panel and whole exome sequencing in non-small cell lung cancer

Authors: Park S, Lee C, Ku B, Kim M, Park W, Kim N, Ahn M (2021 - BMB Reports)

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Authors: Lincoln S, Hambuch T, Zook J, Bristow S, Hatchell K, Truty R, Kennemer M, Shirts B, Fellowes A, Chowdhury S, Klee E, Mahamdallie S, Cleveland M, Vallone P, Ding Y, Seal S, DeSilva W, Tomson F, Huang C, Garlick R, Rahman N, Salit M, Kingsmore S, Ferber M, Aradhya S, Nussbaum R (2021 - Genetics in Medicine)

A clinically validated whole genome pipeline for structural variant detection and analysis

Authors: Neerman N, Faust G, Meeks N, Modai S, Kalfon L, Falik-Zaccai T, Kaplun A (2019 - BMC Genomics)

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing A Pilot Investigating Applications for Hypertrophic Cardiomyopathy

Authors: Kudalkar E, Almontashiri N, Huang C, Anekella B, Bowser M, Hynes E, Garlick R, Funke B (2016 - PubMed)

Clinical value of liquid biopsy in FGFR2 fusion-positive cholangiocarcinoma patients during targeted therapy

Authors: Gonzalez-Medina, A., Vila-Casadesús, M., Gomez-Rey, M., Fabregat-Franco, C., Sierra, A., Tian, T. v., Castet, F., Castillo, G., Matito, J., Martinez, P., Miquel, J. M., Nuciforo, P., Pérez-López, R., Macarulla, T., & Vivancos, A. (2024 - Clinical Cancer Research)

Ultrafast prediction of somatic structural variations by filtering out reads matched to pan-genome k-mer sets

Authors: Sohn, J., Choi, M.-H., Yi, D., Menon, V. A., Kim, Y. J., Lee, J., Park, J. W., Kyung, S., Shin, S.-H., Na, B., Joung, J.-G., Ju, Y. S., Yeom, M. S., Koh, Y., Yoon, S.-S., Baek, D., Kim, T.-M., & Nam, J.-W. (2022 - Nature Biomedical Engineering)

Analytical evaluation of circulating tumor DNA sequencing assays

Authors: Li, W., Huang, X., Patel, R., Schleifman, E., Fu, S., Shames, D. S., & Zhang, J. (2024 -  Scientific Reports)

Validation of a Molecular Diagnostic Test for Circulating Tumor DNA by Next-Gen Sequencing

Authors: Fernandez, S. v., Tan, Y. F., Rao, S., Fittipaldi, P., Sheriff, F., Borghaei, H., Dotan, E., Winn, J. S., Edelman, M. J., Treat, J., Judd, J., Alpaugh, R. K., Wang, Y. L., Yu, J. Q., Wasik, M., & Baldwin, D. A. (2023 - International Journal of Molecular Sciences)

The changing face of circulating tumor DNA (ctDNA) profiling: Factors that shape the landscape of methodologies, technologies, and commercialization

Authors: Bronkhorst, A. J., & Holdenrieder, S. (2023 - Medizinische Genetik)

Revolutionizing NSCLC Diagnosis: Ultra-High-Sensitive ctDNA Analysis for Detecting Hotspot Mutations with Long-Term Stored Plasma

Authors: Lee, J.-Y., Jeon, S., Jun, H. R., Sung, C. O., Jang, S. J., Choi, C.-M., & Chun, S.-M. (2024 - Cancer Research and Treatment)

Opportunities for Liquid Biopsies to Meet the Challenges of Precision Medicine

Authors: Kelloff, G., & Sigman, C. C. (2023 - Springer)

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer

Authors: Kim, B., Kim, Y., Cho, J. Y., & Lee, K.-A. (2024 -  Annals of Laboratory Medicine)

Detection and Monitoring of Tumor-Derived Mutations in Circulating Tumor DNA Using the UltraSEEK Lung Panel on the MassARRAY System in Metastatic Non-Small Cell Lung Cancer Patients

Authors: Leest, P. van der, Janning, M., Rifaela, N., Azpurua, M. L. A., Kropidlowski, J., Loges, S., Lozano, N., Sartori, A., Irwin, D., Lamy, P.-J., Hiltermann, T. J. N., Groen, H. J. M., Pantel, K., Kempen, L. C. van, Wikman, H., & Schuuring, E. (2023 - International Journal of Molecular Sciences)

Optimization of a Protocol for Isolating Cell-free DNA From Cerebrospinal Fluid

Authors: Song, H. H., Park, H., Cho, D., Bang, H. I., Oh, H.-J., & Kim, J. (2024 - Annals of Laboratory Medicine)

Internal Standards for Limit Controls and Absolute Abundance Measurement of Oncogenic Fusions and Mutations

Authors: Morrison, T., Lo, B., Deharvengt, S. J., Lazaridis, N., & Tsongalis, G. J. (2024 - The Journal of Applied Laboratory Medicine)

Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays

Authors: Hallermayr, A., Keßler, T., Fujera, M., Liesfeld, B., Bernstein, S., von Ameln, S., Schanze, D., Steinke-Lange, V., Pickl, J. M. A., Neuhann, T. M., & Holinski-Feder, E. (2023 - Cancers)

Analytical performance evaluation of a 523-gene ctDNA assay for next generation sequencing–based comprehensive tumor profiling in liquid biopsy samples

Authors: Harter, J., Buth, E., Johaenning, J., Battke, F., Kopp, M., Zelba, H., Schulze, M., Koedding, J., & Biskup, S. (2024 - The Journal of Molecular Diagnostics)

Early-Stage Breast Cancer Detection in Breast Milk

Authors: Saura C, Ortiz C, Matito J, Arenas E, Sunol A, Martin A, Cordoba O, Martínez-Sabadell A, García-Ruiz I, Miranda I, Morales-Comas C, Carrasco E, Viaplana C, Peg V, Nuciforo P, Bayó-Puxan N, Gonzalez-Medina A, Miquel J, Gomez-Rey M, Villacampa G, Arevalo S, Espinosa-Bravo M, Balmana J, Dienstmann R, Arribas J, Tabernero J, Vivancos A, Sanso M (2023 - AACR Journals)

Pre-analytical conditions and implementation of quality control steps in liquid biopsy analysis

Authors: Ntzifa A, Lianidou E (2023 - Taylor & Francis Online)

Single‐tube two‐pronged approach using both cell‐free DNA and RNA for multimodal biomarker tests at the time of biopsy

Authors: Lin S, Lai H, Yeh C (2023 - Wiley Online Library)

Evaluation of the Analytical Performance of Oncomine Lung cfDNA Assay for Detection of Plasma EGFR Mutations

Authors: Cho Y, Park J, Han J, Kim T (2023 - MDPI)

Calibration of cell-free DNA measurements by next-generation sequencing

Authors: Hoerres D, Dai Q, Elmore S, Sheth S, Gupta G, Kumar S, Gulley M (2023 - AJCP)

Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer

Authors: Wallander K, Haider Z, Jeggari A, Foroughi-Asl H, Gellerbring A, Lyander A, Chozhan A, Cuba Gyllensten O, Hagglund M, Wirta V, Nordenskjold M, Lindblad M (2023 - MDPI)

Contrived Materials and a Data Set for the Evaluation of Liquid Biopsy Tests

Authors: Hernandez K, Agius P, Baden J, Cao R, Clement O, Corner A, Craft J, Dean D, Dry K, Grigaityte K, Grossman R, Hicks K, Higa N, Holzer T, Jensen J, Johann D, Katz S, Kolatkar A, Keynton J, Lee J, Maar D, Martini J, Meyer C, Robers P, Ryder M, Salvatore L, Schageman J, Somiari S, Stetson D, Stern M, Xu L, Leiman L (2023 - The Journal of Molecular Diagnostics)

Analytical and clinical validation of a custom 15-gene next-generation sequencing panel for the evaluation of circulating tumor DNA mutations in patients with advanced non-small-cell lung cancer

Authors: Chow Y, Zainul Abidin N, Kow K, Tho L, Wong C (2022 - Plos One)

Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer

Authors: Hofste L, Geerlings M, von Rhein D, Tolmeijer S, Weiss M, Gilissen C, Hofste T, Garms L, Janssen M, Rutten H, Rosman C, van der Post R, Klarenbeek B, Ligtenberg M (2022 - MDPI)

Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden

Authors: Lee K, Seo J, Lee C, Shin S, Choi Z, Min S, Yang J, Kwon W, Yun W, Park M, Choi J, Chung H, Lee S, Rha S (2022 - Clinical Chemistry)

Rapid genomic profiling of circulating tumor DNA in non-small cell lung cancer using Oncomine Precision Assay with Genexus™ integrated sequencer

Authors: Low S, Ariyasu R, Uchibori K, Hayashi R, Chan H, Manabe R, Ogusu S, Amino Y, Kitazono S, Yanagitani N, Nakamura Y, Nishio M (2022 - PubMed)

Applications of molecular barcode sequencing for the detection of low-frequency variants in circulating tumour DNA from hepatocellular carcinoma

Authors: Lee H, Kim E, Cho K, Park H, Seo J, Lee H, Baek E, Choi J, Han K, Lee S, Park J (2022 - PubMed)

Parallel Analysis of Pre- and Postoperative Circulating Tumor DNA and Matched Tumor Tissues in Resectable Pancreatic Ductal Adenocarcinoma: A Prospective Cohort Study

Authors: Lee J, Han Y, Yun W, Kwon W, Kim H, Kim J, Seong M, Jang J, Park S (2022 - Clinical Chemistry)

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

Authors: Osterlund T, Filges S, Johansson G, Stahlberg A (2022 - Clinical Chemistry)

Clinical validation and implementation of droplet digital PCR for the detection of BRAF mutations from cell-free DNA

Authors: Arnolda R, Howlett K, Chan T, Raleigh J, Hatzimihalis A, Bell A, Fellowes A, Sandhu S, McArthur G, Fox S, Dawson S, Hewitt C, Jones K, Wong S (2022 - PubMed)

Dutch National Round Robin Trial on Plasma-Derived Circulating Cell-Free DNA Extraction Methods Routinely Used in Clinical Pathology for Molecular Tumor Profiling

Authors: Van Der Leest P, Ketelaar E, Van Noesel C, Van Den Broek D, Van Boerdonk R, Deiman B, Rifaela N, Van Der Geize R, Huijsmans C, Ernst J, Speel J, Geerlings M, Van Schaik R, Jansen M, Dane-Vogelaar R, Driehuis E, Leers M, Sidorenkov G, Tamminga M, Van Kempen L, Schuuring E (2022 - Clinical Chemistry)

Direct comparison of circulating tumor DNA sequencing assays with targeted large gene panels

Authors:  Yu L, Lopez G, Wang Y, Basavanhally T, Browne A, Huang C, Dorsey L, Jen J, Hersey S (2022 - Plos One)

Liquid Profiling for Cancer Patient Stratification in Precision Medicine—Current Status and Challenges for Successful Implementation in Standard Care

Authors: Haselmann V, Hedtke M, Neumaier M (2022 - MDPI)

A novel xenonucleic acid-mediated molecular clamping technology for early colorectal cancer screening

Authors:  Sun Q, Pastor L, Du J, Powell M, Zhang A, Bodmer W, Wu J, Zheng S, Sha M (2021 - Plos One)

Sensitive and robust liquid biopsy-based detection of PIK3CA mutations in hormone-receptor-positive metastatic breast cancer patients

Authors: Suppan C, Graft R, Jahn S, Zhou Q, Klocker E, Bartsch R, Terbuch A, Kashofer K, Regitnig P, Lindenmann J, Posch F, Gerritsmann H, Jost P, Heitzer E, Dandachi N, Balic M (2021 - British Journal of Cancer)

Validation of a Circulating Tumor DNA-Based Next-Generation Sequencing Assay in a Cohort of Patients with Solid tumors: A Proposed Solution for Decentralized Plasma Testing

Authors: Al Zoughbi W, Fox J, Beg S, Papp E, Hissong E, Ohara K, Keefer L, Sigouros M, Kane T, Bockelman D, Nichol D, Patchell E, Bareja R, Karandikar A, Alnajar H, Cerqueira G, Guthrie V, Verner E, Manohar J, Greco N, Wilkes D, Tagawa S, Malbari M, Holcomb K, Eng K, Shah M, Altorki N, Sboner A, Nanus D, Faltas B, Sternberg C, Simmons J, Houvras Y, Molina A, Angiuoli S, Elemento O, Mosquera J (2021 - The Oncologist)

Deepgentm—a novel variant calling assay for low frequency variants

Authors: Hermann B, Pfeil S, Groenke N, Schaible S, Kunze R, Ris F, Hagen M, Bhakdi J (2021 - MDPI)

Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours

Authors: Stankunaite R, George S, Gallagher L, Jamal S, Shaikh R, Yuan L, Hughes D, Proszek P, Carter P, Pietka G, Heide T, James C, Tari H, Lynn C, Jain N, Portela L, Rogers T, Vaidya S, Chisholm J, Carceller F, Szychot E, Mandeville H, Angelini P, Jesudason A, Jackson M, Marshall L, Gatz S, Anderson J, Sottoriva A, Chesler L, Hubank M (2021 - European Journal of Cancer)

Validation of a next-generation sequencing assay for the detection of EGFR mutations in cell-free circulating tumor DNA

Authors: Stitz R, Buder A, Silye R, Baumgartner B, Puhringer F, Filipits M, Oberndorfer E, Heitzer E (2021 - ScienceDirect)

Validation of ctDNA Quality Control Materials Through a Precompetitive Collaboration of the Foundation for the National Institutes of Health

Authors: Williams P, Forbes T, P. Lund S, Cole K, He H, Karlovich C, Paweletz C, Stetson D, Yee L, Connors D, Keating S, Destenaves B, Cleveland M, Lau C, Barrett J, Kelloff G, McCormack R (2021 - JCO Precision Oncology)

Single-copy detection of somatic variants from solid and liquid biopsy

Authors:  Silva A, Powalowska P, Stolarek M, Gray E, Palmer R, Herman B, Frayling C, Balmforth B (2021 - Scientific Reports)

Evaluation of the Oncomine Pan-Cancer Cell-Free Assay for Analyzing Circulating Tumor DNA in the Cerebrospinal Fluid in Patients with Central Nervous System Malignancies

Authors: Shah M, Takayasu T, Zorofchian Moghadamtousi S, Arevalo O, Chen M, Lan C, Duose D, Hu P, Zhu J, Roy-Chowdhuri S, Riascos R, Chen H, Luthra R, Esquenazi Y, Ballester L (2021 - The Journal of Molecular Diagnostics)

Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS

Authors: Rose Brannon A, Jayakumaran G, Diosdado M, Patel J, Razumova A, Hu Y, Meng F, Haque M, Sadowska J, Murphy B, Baidi T, Johnson I, Ptashkin R, Hasan M, Srinivasan P, Rema A, Rijo I, Agarunov A, Won H, Perera D, Brown D, Samolia A, Jing X, Gedvilaite E, Yang J, Stephens D, Dix J, DeGroat N, Nafa K, Syed A, Li A, Lebow E, Bowman A, Ferguson D, Liu Y, Mata D, Sharma R, Yang S, Bale T, Benhamida J, Chang J, Dogan S, Hameed M, Hechtman J, Moung C, Ross D, Vakiani E, Vanderbilt C, Yao J, Razavi P, Smyth L, Chandarlapaty S, Iyer G, Abida W, Harding J, Krantz B, O'Reilly E, Yu H, Li B, Rudin C, Diaz L, Solit D, Arcilla M, Ladanyi M, Loomis B, Tsui D, Berger M, Zehir A, Benayed R (2021 - Nature Communications)

Genetic variants and tumor immune microenvironment: Clues for targeted therapies in inflammatory breast cancer (ibc)

Author: Gong Y, Nagarathinam R, Arisi M, Gerratana L, Winn J, Slifker M, Pei J, Cai K, Hasse Z, Obeid E, Noriega J, Sebastino C, Ross E, Alpaugh K, Cristofanilli M, Fernandez S (2021 - MDPI)

Targets, pitfalls and reference materials for liquid biopsy tests in cancer diagnostics

Authors: Geeurickx E, Hendrix A (2020 - ScienceDirect)

Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing

Authors: Kleftogiannis D, Ho D, Liew J, Poon P, Gan A, Ng R, Tan B, Tay K, Lim S, Tan G, Shih C, Lim T, Lee A, Tan I, Yap Y, Ng S (2020 - PubMed)

Comprehensive characterization of cell-free tumor DNA in plasma and urine of patients with renal tumors

Authors: Smith C, Moser T, Mouliere F, Field-Rayner J, Eldridge M, Riediger A, Chandrananda D, Heider K, Wan J, Warren A, Morris J, Hudecova I, Cooper W, Mithcell T, Gale D, Ruiz-Valdepenas A, Klatte T, Ursprung S, Sala E, Riddick A, Aho T, Matakidou A, Eisen T, Massie C, Rosenfeld N, Heitzer E, Stewart G (2020 - Genome Medicine)

Analytical performance evaluation of TruSight Oncology 500 ( TSO500 ) ctDNA kit ; a commercial next generation sequencing liquid biopsy platform

Authors: Verma S, Naef T, Horvath K, Moore M, Cotter P, Gunn S, Pacificdx R (2020 - National Library of Medicine)

Technical evaluation of commercial mutation analysis platforms and reference materials for liquid biopsy profiling

Authors: Weber S, Spiegl B, Perakis S, Ulz C, Abuja P, Kashofer K, vander Leest P, Azpurua M, Tamminga M, Brudzewsky D, Rothwell D, Mohan S, Sartori A, Lampignano R, Konigshofer Y, Sprenger-Haussels M, Wikman H, Bergheim I, Kloten V, Schuuring E, Speicher M, Heitzer E (2020 - MDPI)

Clinical Validation of a Cell-Free DNA Gene Panel

Authors: Cheng J, Cao Y, MacLeay A, Lennerz J, Baig A, Frazier R, Lee J, Hu K, Pacula M, Meneses E, Robinson H, Batten J, Brastianos P, Heist R, Bardia A, Le L, lafrate A (2019 - The Journal of Molecular Diagnostics)

Structural variation and fusion detection using targeted sequencing data from circulating cell free DNA

Authors: Gawronski A, Lin Y, McConeghy B, Lebihan S, Asghari H, Kockan C, Orabi B, Adra N, Pili R, Collins C, Sahinalp S, Hach F (2019 - National Library of Medicine)

Targeted Single Primer Enrichment Sequencing with Single End Duplex-UMI

Authors: Peng Q, Xu C, Kim D, Lewis M, DiCarlo J, Wang Y (2019 - Scientific Reports)

Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitorTM Assay

Authors: Sisson B, Uvalic J, Kelly K, Selvam P, Hesse A, Ananda G, Chandok H, Bergerson D, Holinka L, Reddi H (2019 - Sage Journals)

Precision cancer monitoring using a novel, fully integrated, microfluidic array partitioning digital PCR platform

Authors: Dueck M, Lin R, Zayac A, Gallagher S, Chao A, Jiang L, Datwani S, Hung P, Stieglitz E (2019 - Scientific Reports)

Impact of Polymerase Fidelity on Background Error Rates in Next-Generation Sequencing with Unique Molecular Identifiers/Barcodes

Authors: Filges S, Yamada E, Stahlberg A, Godfrey T (2019 - Scientific Reports)

Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements

Authors: He H, Stein E, Konigshofer Y, Forbes T, Tomson F, Garlick R, Yamada E, Godfrey T, Abe T, Tamura K, Borges M, Goggins M, Elmore S, Gulley M, Larson J, Ringel L, Haynes B, Karlovich C, Williams P, Garnett A, Stahlberg A, Filges S, Sorbara L, Young M, Srivastava S, Cole K (2019 - The Journal of Molecular Diagnostics)

Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity

Authors: Myint N, Verma A, Fernandez-Garcia D, Sarmah P, Tarpey P, Al-Aqbi S, Cai H, Trigg R, West K, Howells L, Thomas A, Brown K, Guttery D, Singh B, Pringle H, McDermott U, Shaw J, Rufini A (2018 - PubMed)

 

Personalized ctDNA for Monitoring Disease Status in Head and Neck Squamous Cell Carcinoma

Authors: Hanna, G. J., Dennis, M. J., Scarfo, N., Mullin, M. S., Sethi, R. K. V., Sehgal, K., Annino, D. J., Goguen, L. A., Haddad, R. I., Tishler, R. B., Margalit, D. N., Uppaluri, R., Schoenfeld, J. D., & Rettig, E. M. (2024 - Clinical Cancer Research)

Analytical validation of NeXT Personal®, an ultra-sensitive personalized circulating tumor DNA assay

Authors: Northcott, J., Bartha, G., Harris, J., Li, C., Navarro, F. C. P., Pyke, R. M., Hong, M., Zhang, Q., Ma, S., Chen, T. X., Lai, J., Udar, N., Saldivar, J.-S., Ayash, E., Anderson, J., Li, J., Cui, T., Le, T., Chow, R., … Lyle, J. M. (2024 - Oncotarget)

Individualized tumor-informed circulating tumor DNA analysis for postoperative monitoring of non-small cell lung cancer

Authors: Chen, K., Yang, F., Shen, H., Wang, C., Li, X., Chervova, O., Wu, S., Qiu, F., Peng, D., Zhu, X., Chuai, S., Beck, S., Kanu, N., Carbone, D., Zhang, Z., & Wang, J. (2023 - Cancer Cell)

Personalized Cancer Monitoring Assay for the Detection of ctDNA in Patients with Solid Tumors

Authors: Zhao J, Reuther J, Scozzaro K, Hawley M, Metzger E, Emery M, Chen I, Barbosa M, Johnson L, O'Connor A, Washburn M, Hartje L, Reckase E, Johnson V, Zhang Y, Westheimer E, O'Callaghan W, Malani N, Chesh A, Moreau M, Daber R (2023 - Springer Link)

 

 

 

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

Authors: Zhou Q, Gampenrieder S, Frantal S, Rinnerthaler G, Singer C, Egle D, Pfeiler G, Bartsch R, Wette V, Pichler A, Petru E, Dubsky P, Bago-Horvath Z, Fesl C, Rudas M, Stahlberg A, Graf R, Weber S, Dandachi N, Filipits M, Gnant M, Balic M, Heitzer E (2022 - American Association for Cancer Research) 

Ultrasensitive detection of tumor-specific mutations in saliva of patients with oral cavity squamous cell carcinoma

Authors: Shanmugam A, Hariharan A, Hasina R, Nair J, Katragadda S, Irusappan S, Ravichandran A, Veeramachaneni V, Bettadapura R, Bhati M, Ramaswamy V, Rao V, Bagadia R, Manjunath A, Manjunath N, Solomon M, Maji S, Bahadur U, Bettegowda C, Papadopoulos N, Lingen M, Hariharan R, Gupta V, Agrawal N, Izumchenko E (2021 - American Cancer Society Journals)

Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma

Authors: Chae H, Sung P, Choi H, Kwon A, Kang D, Kim Y, Kim M, Yoon S (2021 - KAMJE Synapse)

Decline in circulating viral and human tumor markers after resection of head and neck carcinoma

Authors: Lopez E, Tanner A, Du E, Patel S, Weiss J, Weissler M, Hackman T, Gupta G, Zevallos J, Elmore S, Betancourt R, Thorne L, Sheth S, Gulley M (2021 - PubMed)

On-treatment measurements of circulating tumor DNA during FOLFOX therapy in patients with colorectal cancer

Authors: Moser T, Waldispuehl-Geigl J, Belic J, Weber S, Zhou Q, Hasenleithner S, Graf R, Terzic J, Posch F, Sill H, Lax S, Kashofer K, Hoefler G, Schoellnast H, Heitzer E, Geigl J, Bauernhofer T, Speicher M (2020 - NPJ Precision Oncology)

Personalized circulating tumor DNA analysis as a predictive biomarker in solid tumor patients treated with pembrolizumab

Authors: Bratman S, Yang S, lafolla M, Liu Z, Hansen A, Bedard P, Lheureux S, Spreafico A, Razak A, Shchegrova S, Louie M, Billings P, Zimmermann B, Sethi H, Aleshin A, Torti D, Marsh K, Eagles J, Cirlan I, Hanna Y, Clouthier D, Lien S, Ohashi P, Xu W, Siu L, Pugh T (2020 - Nature Cancer)

Personalized circulating tumor DNA analysis to detect residual disease after neoadjuvant therapy in breast cancer

Authors: McDonald B, Contente-Cuomo T, Sammut S, Odenheimer-Bregman A, Ernst B, Perdigones N, Chin S, Farooq M, Mejia R, Cronin P, Anderson K, Kosiorek H, Northfelt D, McCullough A, Patel B, Weitzel J, Slavin T, Caldas C, Pockaj B, Murtaza M (2019 - Science Translational Medicine)

 

The Advantage of Targeted Next-Generation Sequencing over qPCR in Testing for Druggable EGFR Variants in Non-Small-Cell Lung Cancer

Authors: Szpechcinski, A., Moes-Sosnowska, J., Skronska, P., Lechowicz, U., Pelc, M., Szolkowska, M., Rudzinski, P., Wojda, E., Maszkowska-Kopij, K., Langfort, R., Orlowski, T., Sliwinski, P., Polaczek, M., & Chorostowska-Wynimko, J. (2024 - International Journal of Molecular Sciences) 

Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor.

Authors: Ball, M., Ourailidis, I., Kluck, K., Menzel, M., Kirchner, M., Allgäuer, M., Yong Tay, T. K., Schnecko, F., Volckmar, A.-L., Goldschmid, H., Neuman, O., Fröhling, S., Schirmacher, P., Budczies, J., Stenzinger, A., & Kazdal, D. (2024 - The Journal of Molecular Diagnostics)

HRAS overexpression predicts response to Lenvatinib treatment in gastroenteropancreatic neuroendocrine tumors

Authors: Liverani, C., Spadazzi, C., Ibrahim, T., Pieri, F., Foca, F., Calabrese, C., de Vita, A., Miserocchi, G., Cocchi, C., Vanni, S., Ercolani, G., Cavaliere, D., Ranallo, N., Chiadini, E., Prisinzano, G., Severi, S., Sansovini, M., Martinelli, G., Bongiovanni, A., & Mercatali, L. (2023 - Frontiers in Endocrinology)

 

Implementation of an ISO15189 accredited next-generation sequencing service with the fully automated Ion Torrent Genexus: the experience of a clinical diagnostic laboratory

Authors: Werner, R., Connolly, A., Bennett, M., Hand, C. K., & Burke, L. (2022 - Journal of Clinical Pathology)

Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies

Authors: Schilter, K. F., Smith, B. A., Nie, Q., Stoll, K., Felix, J. C., Jarzembowski, J. A., & Reddi, H. v. (2023 - Frontiers in Genetics)

Personalized Cancer Monitoring Assay for the Detection of ctDNA in Patients with Solid Tumors

 

Authors: Zhao J, Reuther J, Scozzaro K, Hawley M, Metzger E, Emery M, Chen I, Barbosa M, Johnson L, O'Connor A, Washburn M, Hartle L, Reckase E, Johnson V, Zhang Y, Westheimer E, O'Callaghan W, Malani N, Chesh A, Moreau M, Daber R (2023 - Springer Link)

Analytical Validation and Clinical Utilization of the Oncomine Comprehensive Assay Plus Panel for Comprehensive Genomic Profiling in Solid Tumors

Authors: Dumur C, Krishnan R, Almenara J, Brown K, Dugan K, Farni C, Ibrahim F, Sanchez N, Rathore S, Pradhan D, Hughes J (2023 - MDPI)

Technical Validation and Clinical Utility of an NGS Targeted Panel to Improve Molecular Characterization of Pediatric Acute Leukemia

Authors: Vicente-Garces C, Esperanza-Cebollada E, Montesdeoca S, Torrebadell M, Rives S, Dapena J, Catala A, Conde N, Camos M, Vega-Garcia N (2022 - Frontiers)

Homologous recombination deficiency (HRD) as an ovarian cancer biomarker in a real-world cohort – validation of decentralized genomic profiling

Authors: Denkert C, Romey M, Swedlund B, Hattesohl A, Teply-Szymanski J, Kommoss S, Kaiser K, Staebler A, du Bois A, Grass A, Knappmeyer C, Heitz F, Solimeno C, Ebel T, Harter P, Marme F, Jank P, Gaiser T, Neff C, Wagner U, Timms K, Rodepeter F (2022 - The Journal of Molecular Diagnostics)

Quality metrics for enhanced performance of an NGS panel using single-vial amplification technology

Authors: Barua S, Hsiao S, Clancy E, Freeman C, Mansukhani M, Fernandes H (2022 - BMJ Journals)

An Integrative DNA Sequencing and Methylation Panel to Assess Mismatch Repair Deficiency

Authors: Oldfield L, Li T, Tone A, Aronson M, Edwards M, Holter S, Quevedo R, Van de Laar E, Lerner-Ellis J, Pollett A, Clarke B, Tabori U, Gallinger S, Ferguson S, Pugh T (2021 - The Journal of Molecular Diagnostics)

A robust targeted sequencing approach for low input and variable quality DNA from clinical samples

Authors: So A, Vilborg A, Bouhlal Y, Koehler R, Grimes S, Pouliot Y, Mendoza D, Ziegle J, Stein J, Goodsaid F, Lucero M, De La Vega F, Ji H (2018 - NPJ Genomic Medicine)

Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling

Authors: Plagnol V, Woodhouse S, Howarth K, Lensing S, Smith M, Epstein M, Madi M, Smalley S, Leroy C, Hinton J, De Kievit F, Musgrave-Brown E, Herd C, Baker-Neblett K, Brennan W, Dimitrov P, Campbell N, Morris C, Rosenfeld N, Clark J, Gale D, Platt J, Calaway J, Jones G, Forshew T (2018 - Plos One)

Use of Biosynthetic Controls as Performance Standards for Next-Generation Sequencing Assays of Somatic Tumors: A Multilaboratory Study

Authors: De Abreu F, Peterson J, Deharvengt S, Daber R, Sarsani V, Spotlow V, Harrington R, Lih C, Williams P, Bouk C, Konigshofer Y, Huang C, Anekella B, Davis L, Garlick R, Ferreira-Gonzalez A, Dumur C, Farnandes H, Haralampu S, Tsongalis G (2017 - The Journal of Applied Laboratory Medicine)

Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing

Authors: Apostolides, M., Li, M., Arnoldo, A., Ku, M., Husić, M., Ramani, A. K., Brudno, M., Turinsky, A., Hawkins, C., & Siddaway, R. (2023 - The Journal of Molecular Diagnostics)

An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors

Authors: Buckley, J., Schmidt, R. J., Ostrow, D., Maglinte, D., Bootwalla, M., Ruble, D., Govindarajan, A., Ji, J., Kovach, A. E., Orgel, E., Raca, G., Navid, F., Mascarenhas, L., Pawel, B., Robison, N., Gai, X., & Biegel, J. A. (2024 - The Journal of Molecular Diagnostics) 

Clinical Validation of FusionPlex RNA Sequencing and Its Utility in the Diagnosis and Classification of Hematologic Neoplasms

Authors: Chen, X., Wang, W., Yeh, J., Wu, Y., Oehler, V. G., Naresh, K. N., & Liu, Y. J. (2023 - The Journal of Molecular Diagnostics)

Low-grade fibromyxoid sarcoma of the breast: genetic characterization and immunohistochemical comparison to morphologic mimics

Authors: Cloutier, J. M., Moreland, A., Wang, L., Kunder, C. A., Allard, G., Wang, A., Krings, G., Charville, G. W., & Bean, G. R. (2023 - Human Pathology)  

Detection of NTRK gene fusions in solid tumors: recommendations from a Latin American group of oncologists and pathologists

Authors: Cuello, M., García-Rivello, H., Huamán-Garaicoa, F., Irigoyen-Piñeiros, P., Lara-Torres, C. O., Rizzo, M. M., Ticona-Castro, M., Trejo, R., & Zoroquiain, P. (2023 - Future Oncology

Rapid gene fusion testing using the NanoString nCounter platform to improve pediatric leukemia diagnoses in Sub-Saharan Africa

Authors: Gastier-Foster, J. M., Lutwama, F., Mbabazi, O., Mlenga, S., Ulaya, K., Namazzi, R., Hollingsworth, E. F., Lopez-Terrada, D., Fisher, K. E., Roy, A., Allen, C. E., Poplack, D. G., Mzikamanda, R., Ozuah, N., & Wasswa, P. (2024 - Frontiers in Oncology) 

A Computational Framework for Comprehensive Genomic Profiling in Solid Cancers: The Analytical Performance of a High-Throughput Assay for Small and Copy Number Variants

 

Authors: Giacò, L., Palluzzi, F., Guido, D., Nero, C., Giacomini, F., Duranti, S., Bria, E., Tortora, G., Cenci, T., Martini, M., de Paolis, E., Onori, M. E., de Bonis, M., Normanno, N., Scambia, G., & Minucci, A. (2022 - Cancers) 

Detection of multiple types of cancer driver mutations using targeted RNA sequencing in non–small cell lung cancer

 

Authors: Ju, S., Cui, Z., Hong, Y., Wang, X., Mu, W., Xie, Z., Zeng, X., Su, L., Lin, X., Zhang, Z., Zhang, Q., Song, X., You, S., Chen, R., Chen, W., Xu, C., & Zhao, J. (2023 - Cancer) 

HRAS overexpression predicts response to Lenvatinib treatment in gastroenteropancreatic neuroendocrine tumors

Authors: Liverani, C., Spadazzi, C., Ibrahim, T., Pieri, F., Foca, F., Calabrese, C., de Vita, A., Miserocchi, G., Cocchi, C., Vanni, S., Ercolani, G., Cavaliere, D., Ranallo, N., Chiadini, E., Prisinzano, G., Severi, S., Sansovini, M., Martinelli, G., Bongiovanni, A., & Mercatali, L. (2023 - Frontiers in Endocrinology) 

The landscape of cancer-associated transcript fusions in adult brain tumors: a longitudinal assessment in 140 patients with cerebral gliomas and brain metastases.

 

Authors: Metellus, P., Camilla, C., Bialecki, E., Beaufils, N., Vellutini, C., Pellegrino, E., Tomasini, P., Ahluwalia, M. S., Mansouri, A., Nanni, I., & Ouafik, L. (2024 - Frontiers in Oncology) 

Analytic validation of NeXT DxTM, a comprehensive genomic profiling assay.

 

Authors: Saldivar, J.-S., Harris, J., Ayash, E., Hong, M., Tandon, P., Sinha, S., Hebron, P. M., Houghton, E. E., Thorne, K., Goodman, L. J., Li, C., Marfatia, T. R., Anderson, J., Morra, M., Lyle, J., Bartha, G., & Chen, R. (2023 - Oncotarget)

Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.

 

Authors: Schieffer, K. M., Moccia, A., Bucknor, B. A., Stonerock, E., Jayaraman, V., Jenkins, H., McKinney, A., Koo, S. C., Mathew, M. T., Mardis, E. R., Lee, K., Reshmi, S. C., & Cottrell, C. E. (2023 - Cancers) 

Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies

 

Authors: Schilter, K. F., Smith, B. A., Nie, Q., Stoll, K., Felix, J. C., Jarzembowski, J. A., & Reddi, H. v. (2023 - Frontiers in Genetics)

Implementation of an ISO15189 accredited next-generation sequencing service with the fully automated Ion Torrent Genexus: the experience of a clinical diagnostic laboratory

 

Authors: Werner, R., Connolly, A., Bennett, M., Hand, C. K., & Burke, L. (2022 - Journal of Clinical Pathology)

Validation of the Idylla GeneFusion assay to detect fusions and MET exon-skipping in non-small cell lung cancers

 

Authors: Gilson P, Pouget C, Belmonte R, Fadil S, Demange J, Rouyer M, Lacour J, Betz M, Dardare J, Witz A, Merlin J, Harle A (2023 Scientific Reports)

Cancer gene analysis of liquid‐based cytology specimens using next‐generation sequencing: A technical report of bimodal DNA ‐ and RNA ‐based panel application

Authors: Akahane T, Isochi-Yamaguchi T, Hashiba-Ohnuki N, Bandoh N, Aimono E, Kato Y, Nishihara H, Kamada H, Tanimoto A (2023 - Wiley Online Library)

Interlaboratory Comparison Study (Ring Test) of Next-Generation Sequencing–Based NTRK Fusion Detection in South Korea

Authors: Lee S, Lee M, Jeon Y, Shim H, Kang J, Kim J, Choi Y (2023 - Cancer Research and Treatment)

An Italian Multicenter Perspective Harmonization Trial for the Assessment of MET Exon 14 Skipping Mutations in Standard Reference Samples

Authors: Bironzo P, Pepe F, Russo G, Pisapia P, Gragnano G, Aquino G, Bessi S, Buglioni S, Bartoccini F, Ferrero G, Bresciani M, Francia di Celle P, Sibona F, Giusti A, Movilia A, Farioli R, Santoro A, Salemi D, Scarpino S, Galafate D, Tommasi S, Lacalamita R, Seminati D, Sajjadi E, Novello S, Pagni F, Troncone G, Malapelle U (2023 - MDPI)

Performance Characteristics of Oncomine Focus Assay for Theranostic Analysis of Solid Tumors, A (21-Months) Real-Life Study

Authors: Bamba-Funck J, Fabre E, Kambouchner M, Schischmanoff O (2023 - MDPI)

CANTRK: A Canadian Ring Study to Optimize Detection of NTRK Gene Fusions by Next-Generation RNA Sequencing

Authors: Stockley T, Lo B, Box A, Corredor A, DeCoteau J, Desmeules P, Feilotter H, Grafodatskaya D, Greer W, Hawkins C, Huang W, Izevbaye I, Lepine G, Martins Filho S, Papadakis A, Park P, Riviere J, Sheffield B, Spatz A, Spriggs E, Tran-Thanh D, Yip S, Zhang T, Torlakovic E, Tsao M (2023 - The Journal of Molecular Diagnostics)

IDH-mutant astrocytoma with an evolutional progression to CDKN2A/B homozygous deletion and NTRK fusion during recurrence: A case report

Authors: Kirishima M, Akahane T, Higa N, Suzuki S, Ueno S, Yonezawa H, Uchida H, Hanaya R, Yoshimoto K, Shimajiri S, Kitazono I, Tahimoto A (2022 - ScienceDirect)

Assessment of Two Commercial Comprehensive Gene Panels for Personalized Cancer Treatment

Authors: Ottestad A, Huanh M, Emdal E, Mjelle R, Skarpeteig V, Dai H (2022 - MDPI)

Assessing and Evaluating the Scope and Constraints of Idylla Molecular Assays by Using Different Source Materials in Routine Diagnostic Settings

Authors: Boppudi S, Scheil-Bertram S, Faust E, Annamneedi A, Fisseler-Eckhoff A (2022 - MDPI)

Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE

Authors: Gray E, Mordaka J, Christoforou E, von Bargen K, Potts N, Xyrafaki C, Silva A, Stolarek-Januszkiewicz M, Anton K, Powalowska P, Andreazza S, Tomassini A, Palmer R, Cooke A, Osborne R, Balmforth B (2022 - BMC Medical Genomics)

FGFR1–4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer

Authors: Moes-Sosnowska J, Skupinska M, Lechowicz U, Szczepulska-Wojcik E, Skronska P, Rozy A, Stepniewska A, Langfort R, Rudzinski P, Orlowski T, Popiel D, Stanczak A, Wieczorek M, Chorostowska-Wynimko J (2022 - MDPI)

Diagnostic Validation of a Comprehensive Targeted Panel for Broad Mutational and Biomarker Analysis in Solid Tumors

Authors: Froyen G, Geerdens E, Berden S, Cruys B, Maes B (2022 - MDPI)

Clinical utility and performance of an ultra-rapid multiplex RNA-based assay for detection of ALK, ROS1, RET and NTRK1/2/3 rearrangements and MET exon 14 skipping alterations

Authors: Chu Y, Barbee J, Yang S, Chang J, Liang P, Mullaney K, Chan R, Salazar P, Benayed R, Offin M, Drilon A, Ladanyi M, Nafa K, Arcila M (2022 - The Journal of Molecular Diagnostics)

Integrating comprehensive genomic sequencing of non-small cell lung cancer into a public healthcare system

Authors: Perdrizet K, Stockley T, Law J, Smith A, Zhang T, Fernandes R, Shabir M, Sabatini P, Youssef N, Ishu C, Li J, Tsao M, Pal P, Cabanero M, Schwock J, Ko H, Boerner S, Ruff H, Shepherd F, Bradbury P, Liu G, Sacher A, Leighl N (2022 - ScienceDirect)

The role of next-generation sequencing in detecting gene FUSIONS with KNOWN and UNKNOWN partners: A single-center experience with methodologies’ integration

Authors: Ambrosini-Spaltro A, Farnedi A, Calistri D, Rengucci C, Prisinzano G, Chiadini E, Capelli L, Angeli D, Bennati C, Valli M, De Luca G, Caruso D, Ulivi P, Rossi G, (2022 - ScienceDirect)

Performance of an RNA-based Next-Generation Sequencing Assay for Combined Detection of Clinically Actionable Fusions and Hotspot Mutations in Non-Small Cell Lung Cancer

Authors: Desmeules P, Boudreau D, Bastien N, Boulanger M, Bossé Y, Joubert P, Couture C (2022 - JTO Clinical and Research Reports)

Evaluating Targeted Next-Generation Sequencing Assays and Reference Materials for NTRK Fusion Detection

Authors: Bormann Chung C, Lee J, Barritault M, Bringuier P, Xu Z, Huang W, Beharry A, Castillo J, Christiansen J, Lin J, Sheffield B (2022 - The Journal of Molecular Diagnostics)

Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions

Authors: Park H, Baek I, Cheang G, Solomon J, Song W (2021 - The Journal of Molecular Diagnostics)

Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens

Authors: Haley L, Parimi V, Jiang L, Pallavajjala A, Hardy M, Yonescu R, Morsberger L, Stinnett V, Long P, Zou Y, Gocke C (2021 - The Journal of Molecular Diagnostics)

Factors Impacting Clinically Relevant RNA Fusion Assays Using Next-Generation Sequencing

Authors: Ramani N, Patel K, Routbort M, Alvarez H, Broaddus R, Chen H, Rashid A, Lazar A, Lucas F, Yao H (2021 - Archives of Pathology & Laboratory Medicine)

Utilization of cytology smears improves success rates of RNA-based next-generation sequencing gene fusion assays for clinically relevant predictive biomarkers

Authors: Ramani N, Chen H, Broaddus R, Lazar A, Luthra R, Medeiros L, Patel K, Rashid A, Routbort M, Stewart J, Tang Z, Bassett R, Manekia J, Barkoh B, Dang H, Roy-Chowdhuri S (2021 - American Cancer Society Journals)

MetaFusion: a high-confidence metacaller for filtering and prioritizing RNA-seq gene fusion candidates

Authors: Apostolides M, Jiang Y, Husic M, Siddaway R, Hawkins C, Turinsky A, Brudno M, Ramani A (2021 - Oxford Academics Bioinformatics)

Development and Validation of an RNA Sequencing Assay for Gene Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tumors

Authors: Peng H, Huang R, Wang K, Wang C, Li B, Gou Y, Li M, Zhang D, Dong H, Chen H, Chen C, Xu Q, Li F, Tian L, Wu J (2021 - The Journal of Molecular Diagnostics)

Discovery of clinically relevant fusions in pediatric cancer

Authors: LaHaye S, Fitch J, Voytovich K, Herman A, Kelly B, Lammi G, Arbesfeld J, Wijeratne S, Franklin S, Schieffer K, Bir N, McGrath S, Miller A, Wetzel A, Miller K, Bedrosian T, Leraas K, Varga E, Lee K, Gupta A, Setty B, Boue D, Leonard J, Finlay J, Abdelbaki M, Osorio D, Koo S, Koboldt D, Wagner A, Eisfeld A, Mrozer K, Magrini V, Cottrell C, Mardis E, Wilson R, White P (2021 - Springer Link)

Diagnostic utility of one-stop fusion gene panel to detect TFE3/TFEB gene rearrangement and amplification in renal cell carcinomas

Authors: Harada S, Calio A, Janowski K, Morlote D, Rodriguez Pena M, Canete-Portillo S, Harbi D, DeFrank G, Magi-Galluzzi C, Netto G, Martignoni G, Mackinnon A (2021 - Modern Pathology)

Guideline-Adherent Clinical Validation of a Comprehensive 170-Gene DNA/RNA Panel for Determination of Small Variants, Copy Number Variations, Splice Variants, and Fusions on a Next-Generation Sequencing Platform in the CLIA Setting

Authors: Boyle T, Mondal A, Saeed-Vafa D, Ananth S, Ahluwalia P, Kothapalli R, Chaubey A, Roberts E, Qin D, Magliocco A, Rojiani A, Kolhe R (2021 - Frontiers in Genetics)

A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors

Authors: Conroy Id J, Pabla S, Glenn S, Seager R, Roey E, Gao S, Burgher B, Andreas J, Giamo V, Mallon M, Lee Y, Depietro P, Nesline M, Wang Y, Lenzo F, Klein Id R, Zhang S (2021 - Plos One)

Development and Clinical Validation of a Multiplex Gene Fusion Assay

Authors: Garcia R, Patel N, Uddin N, Park J (2020 - Laboratory Medicine)

Key considerations for comprehensive validation of an RNA fusion NGS panel

Authors: Barua S, Wang G, Mansukhani M, Hsiao S, Fernandes H (2020 - PubMed)

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Authors: Seager M, Aisner D, Davies K (2019 - PubMed)

Design, Optimization, and Multisite Evaluation of a Targeted Next-Generation Sequencing Assay System for Chimeric RNAs from Gene Fusions and Exon-Skipping Events in Non–Small Cell Lung Cancer

Authors: Blidner R, Haynes B, Hyter S, Schmitt S, Pessetto Z, Godwin A, Su D, Hurban P, van Kempen L, Aguirre M, Gokul S, Cardwell R, Latham G (2019 - The Journal of Molecular Diagnostics)

Clinical validation of the Tempus xO assay

Authors: Beaubier N, Tell R, Huether R, Bontrager M, Bush S, Parsons J, Shah K, Baker T, Selkov G, Taxter T, Thomas A, Bettis S, Khan A, Lau D, Lee C, Barber M, Cieslik M, Frankenberger C, Franzen A, Weiner A, Palmer G, Lonigro R, Robinson D, Wu Y, Cao X, Lefkofsky E, Chinnaiyan A, White K (2018 - National Library of Medicine)