Clinical Validation of a Sensitive Test for Saliva Collected in Health Care and Community Settings with Pooling Utility for Severe Acute Respiratory Syndrome Coronavirus 2 Mass Surveillance
Publication date: Available online 4 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Nikhil S. Sahajpal, Ashis K. Mondal, Sudha Ananth, Allan Njau, Pankaj Ahluwalia, Vamsi Kota, Kevin Caspary, Ted M. Ross, Michael Farrell, Michael P. Shannon, Sadanand Fulzele, Alka Chaubey, Madhuri Hegde, Amyn M. Rojiani, Ravindra Kolhe (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 19, 2021 Category: Pathology Source Type: research

Cancer Whole Genome Sequencing: The Quest for Comprehensive Genomic Profiling in Routine Oncology Care
Publication date: Available online 18 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Andrew C. Nelson, Sophia L. Yohe (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 19, 2021 Category: Pathology Source Type: research

Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology (AMP) Pharmacogenetics Working Group Tier 2 Status - A GeT-RM Collaborative Project
Publication date: Available online 19 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Victoria M. Pratt, Amy Turner, Ulrich Broeckel, D. Brian Dawson, Andrea Gaedigk, Ty C. Lynnes, Elizabeth B. Medeiros, Ann M. Moyer, Deborah Requesens, Francesco Ventrini, Lisa V. Kalman (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 19, 2021 Category: Pathology Source Type: research

Multiple immunoglobulin kappa rearrangements within a single clone unraveled by NGS-based clonality assessment
Publication date: Available online 19 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): A. Meilinde Leenders, Leonie I. Kroeze, Jos Rijntjes, Jeroen Luijks, Konnie M. Hebeda, Nikos Darzentas, Anton W. Langerak, Michiel van den Brand, Patricia J.T.A. Groenen (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 19, 2021 Category: Pathology Source Type: research

Real-life head-to-head comparison of performance of two high-throughput automated assays for detection of SARS-CoV-2 RNA in nasopharyngeal swabs: the Alinity m SARS-CoV-2 and cobas 6800 SARS-CoV-2 assays
Publication date: Available online 19 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Rok Kogoj, Petra Kmetič, Anja Oštrbenk Valenčak, Kristina Fujs Komloš, Katja Seme, Martin Sagadin, Miša Korva, Mario Poljak (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 19, 2021 Category: Pathology Source Type: research

Double drop-off droplet digital PCR (DDO-ddPCR): a novel, versatile tool for mutation screening and residual disease monitoring in acute myeloid leukemia using cellular or cell-free DNA
Publication date: Available online 19 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Christian Rausch, Maja Rothenberg-Thurley, Simon A. Buerger, Sebastian Tschuri, Annika Dufour, Michaela Neusser, Stephanie Schneider, Karsten Spiekermann, Klaus H. Metzeler, Frank Ziemann (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 19, 2021 Category: Pathology Source Type: research

A Validated Functional Analysis of PALB2 (Partner and Localizer of BRCA2) Missense Variants for Use in Clinical Variant Interpretation
Publication date: Available online 6 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Sarah E. Brnich, Eyla Cristina Arteaga, Yueting Wang, Xianming Tan, Jonathan S. Berg (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 7, 2021 Category: Pathology Source Type: research

Clinical validation of Whole Genome Sequencing for cancer diagnostics
Publication date: Available online 6 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Paul Roepman, Ewart de Bruijn, Stef van Lieshout, Lieke Schoenmaker, Mirjam C. Boelens, Hendrikus J. Dubbink, Willemina RR. Geurts-Giele, Floris H. Groenendijk, Manon MH. Huibers, Mariëtte EG. Kranendonk, Margaretha GM. Roemer, Kris G. Samsom, Marloes Steehouwer, Wendy WJ. de Leng, Alexander Hoischen, Bauke Ylstra, Kim Monkhorst, Jacobus JM. van der Hoeven, Edwin Cuppen (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 7, 2021 Category: Pathology Source Type: research

Validation of a targeted next-generation sequencing panel for tumor mutation burden analysis: results from the Onconetwork Immuno-Oncology Consortium.
Publication date: Available online 6 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Francesca Fenizia, Ilaria Alborelli, Jose Luis Costa, Claudia Vollbrecht, Beatriz Bellosillo, Winand Dinjens, Volker Endris, Carina Heydt, Katharina Leonards, Sabine Merkelback-Bruse, Nicole Pfarr, Ronald van Marion, Christopher Allen, Ruchi Chaudhary, Rajesh Gottimukkala, Fiona Hyland, Elaine Wong-Ho, Philip Jermann, Jose Carlos Machado, Michael Hummel (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 7, 2021 Category: Pathology Source Type: research

A comparative study of real-time RT-PCR-based SARS-CoV-2 detection methods and its application to human-derived and surface swabbed material
Publication date: Available online 5 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Aizhan Tastanova, Corinne Isabelle Stoffel, Andreas Dzung, Phil Fang Cheng, Elisa Bellini, Pål Johansen, Agathe Duda, Stephan Nobbe, Reto Lienhard, Philipp Peter Bosshard, Mitchell Paul Levesque (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 5, 2021 Category: Pathology Source Type: research

Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency
Publication date: Available online 5 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Samantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, Corrina Cliffe, George Elakis, Suzanna E.L. Temple, Arthavan Selvanathan, Lisa Ewans, Nila Quayum, Cheng-Yee Nixon, Kerith-Rae Dias, Sarah Lang, Anna Richards, Shuxiang Goh, Meredith Wilson, David Mowat, Rani Sachdev, Sarah Sandaradura, Maie Walsh, Michelle A. Farrar (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 5, 2021 Category: Pathology Source Type: research

Evaluation of two commercial kits on the automated ELITe InGenius PCR platform for molecular diagnosis of toxoplasmosis
Publication date: Available online 4 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Céline Nourrisson, Maxime Moniot, Philippe Poirier, Yvon Sterkers (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 5, 2021 Category: Pathology Source Type: research

SalivaAll: Clinical validation of a sensitive test for saliva collected in healthcare and community settings with pooling utility for SARS-CoV-2 mass surveillance.
Publication date: Available online 4 May 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Nikhil S. Sahajpal, Ashis K. Mondal, Sudha Ananth, Allan Njau, Pankaj Ahluwalia, Vamsi Kota, Kevin Caspary, Ted M. Ross, Michael Farrell, Michael P. Shannon, Sadanand Fulzele, Alka Chaubey, Madhuri Hegde, Amyn M. Rojiani, Ravindra Kolhe (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 5, 2021 Category: Pathology Source Type: research

Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants
Publication date: Available online 30 March 2021Source: The Journal of Molecular DiagnosticsAuthor(s): John N. Milligan, Jessica L. Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Tsang-Ming Ko, Kristin M. Abbott, Henny H. Lemmink, Minna Toivonen, Johanna Schleutker, Caren Gentile, Vivianna M. Van Deerlin, Huiping Zhu, Gary J. Latham (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - May 2, 2021 Category: Pathology Source Type: research

Modifying a Diagnostic SARS-CoV-2 Spike PCR to Turn a Del69/70 Dropout into a Discriminatory On-Target Assay
Publication date: Available online 13 April 2021Source: The Journal of Molecular DiagnosticsAuthor(s): Dominik Nörz, Susanne Pfefferle, Moritz Grunwald, Nicole Fischer, Martin Aepfelbacher, Marc Lütgehetmann (Source: The Journal of Molecular Diagnostics)
Source: The Journal of Molecular Diagnostics - April 29, 2021 Category: Pathology Source Type: research