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the journal of molecular diagnostics

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Papers59
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Journal Papers 76
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Segmental Copy Number Variant Detection Using an Amplicon-based NGS Panel for Integrated Glioma Classification
delete2026-07-02
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deleteKajeetha Sarvananthan; Stephanie Santos; Brent Saylor; Parsa Khanderooy; Tavleen Banwait; Bekim Sadikovic; Laila Schenkel; Anahita Mohseni Meybodi; Emilie Lalonde
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Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a qPCR-Based Assay
delete2026-07-01
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deleteRiffat Munir; Tracy Sungu; Denise Lawrie; Wendy Susan Stevens; Lesley Erica Scott
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Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared to Ion Torrent Analysis
delete2026-06-19
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deleteNada El Makhzen; Brahim El Hejjioui; Badreddine ElMakhzen; Abdelhamid Bouramtane; Sanae Bennis; Laila Bouguenouch; Hugues Abriel
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Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-based PCR Assay
delete2026-06-19
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deleteGloria Hopkins Sura; Srividya Arjuna; Mohamed H. Maher; Dzifa Duose; Lize Bollen; Doug Hebert; Felix Seifert; Bieke Van Dorst; Joost C.A. Janssens; Patricia Caffes; Ying-Chun Lo
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Endonuclease-Assisted Selective Exponential Amplification (ESEA) for Ultra-Sensitive Enrichment and Detection of Low-abundance Mutant Alleles in Lung Cancer
delete2026-06-19
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PREAI
deletePei Li; Bao Lv; Liyi Zhang; Xiaoling Xu; Zhanfang Zhang; Weijian Li; Tao Zhang; Xinyu Miao; Xiaoguang Pan; Yonglun Luo; Weimin Mao; Hongyang Lu; Jinzhao Song
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Clinical validation of the Roche cobas and cobas 4800 HPV tests on self-collected vaginal dry swabs vs practitioner-collected cervical specimens using the VALHUDES Protocol
delete2026-06-19
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PREAI
deleteDavid Hawkes; Desuba Gurung; Eunice Pineda; Alvin Lee; Joanne Romano; Marco Ho Ting Keung; Julie Silvers; Angela Steele; Yasmin Jayasinghe; Julia M.L. Brotherton; Marc Arbyn; C. David Wrede; Marion Saville
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Genetic Landscape of Acute Leukemia of Ambiguous Lineage: A Single Cancer Center Experience
delete2026-06-04
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PREAI
deleteFei Fei; Milhan Telatar; Lisa Chang; Hui Pan; Sunmin Park; Javier Arias-Stella; Parastou Tizro; Vanina Tomasian; Anthony S. Stein; Forrest Marc Stewart; Guido Marcucci; Pamela S. Becker; Michelle Afkhami
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Pitfalls in detecting MET exon 14 skipping variants by DNA- and RNA- based next generation sequencing technologies in a large real-world cohort and results of the first multinational EQA schemes
delete2026-06-04
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deleteCarina Heydt; Michaela Angelika Ihle; Katharina Ilm; Jan Rehker; Peony Poon; Janna Siemanowski-Hrach; Roberto Pappesch; Svenja Wagener-Ryczek; Christoph Jonas; Jana Fassunke; Richard Riedel; Anne Maria Schultheis; Reinhard Buettner; Sabine Merkelbach-Bruse; Udo Siebolts
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Analytical validation of short-read genome sequencing for diagnostic panel and exome testing
delete2026-05-28
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deleteYao Yang; Nathan A. Hammond; Pun Wai Tong; Chandler Ho; Nathaniel Watson; Linda Liao; Tina Tan; Lei Chen; Kevin Dumas; Dianna Fisk; Megan E. Grove; Caitlin Hale; Zena Ng; Young Park; Caitlin Reavey; Emma E. Smith; Katelyn S. Weymouth; Shana White; Elizabeth Spiteri; Wanqiong Qiao
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Multicenter Clinical Comparison of the 10 Minute AMDI Fast PCR Mini Respiratory Panel and the Cepheid Xpert Xpress CoV-2/Flu/RSV plus
delete2026-05-26
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deleteAravind Srinivasan; Regina Martin; Gregory Allen; Christopher Price; Deon Miller; Shilpi Mittal; Christi Ledo; Estibaliz Alvarado; Yvette Arroyo; Francesca Foltz; Patrick Halle; Jacob Amos Hambalek; Alem Abebe; Yujia Liu; Aiying Sun; Humaira Janwari; Kirk Allen; Hsiang-Wei Lu; Noe Gutierrez; Justin Nako
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Optimization of Pathologists’ Roles in Molecular Biomarker Testing in Metastatic Breast Cancer: A Consensus Statement
delete2026-05-26
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deleteRavindra Kolhe; Cansu Karakas; Eric Vail; Georgios Deftereos; Nikoletta Sidiropoulos
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Digital PCR for Absolute Quantification of Adenoviruses
delete2026-05-14
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deleteMikayla Quinton; Omar Abdullah; Amary Fall; Heba H. Mostafa
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Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department
delete2026-05-04
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PREAI
deleteSamuel M. Goodfellow; Jennifer Dien Bard; Vivian Lee; Deborah R. Liu; Cristina Costales
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Validation of MyHPVscore: a high-performance HPV ctDNA lab developed test
delete2026-05-04
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deleteJordan Currie; Heather Walline; Colleen G. Hochfelder; Chandan Bhambhani; Collin V. Brummel; Erin Sandford; Apurva Bhangale; Rawan Akhdar; Marisa Buchakjian; Keith A. Casper; Steven B. Chinn; David Forner; Kelly M. Malloy; Jennifer L. Shah; Andrew G. Shuman; Chaz L. Stucken; Matthew E. Spector; Francis P. Worden; Pratyusha Yalamanchi; Molly Heft Neal
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Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
delete2026-04-23
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deleteRaymond Dalgleish; Peter J. Freeman; John F. Wagstaff; Elspeth A. Bruford; Ivo F.A.C. Fokkema
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Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (OLIVE)
delete2026-04-22
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PREAI
deleteMelissa Y. Tjota; Peng Wang; Sisi Qin; Ming Gao; Wenjun Kang; Viswateja Nelakuditi; Jeremy P. Segal
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Evaluation of chimerism testing by next generation sequencing using indel markers: Analytical validation and examples of clinical utilization
delete2026-04-22
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deleteShannon Dutterer; Christle Moore; Maya Giddens; Juliet Smith; Jenifer Williams; Jessica Magwood; Jeane Silva; Cathi Murphey; Valia Bravo-Egana
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Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
delete2026-04-22
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deleteGiuseppe Sberna; Pierpaolo Paba; Cosmina Mija; Gaetana Costanza; Fabiano Brillo; Sandro Grelli; Fabrizio Maggi; Eleonora Lalle
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