A Streamlined PENK Methylation Test in Urine DNA, EarlyTect BCD, Effectively Detects Bladder Cancer in Hematuria Patients
This study aims to evaluate the validity of a streamlined urine-based PENK methylation test called EarlyTect BCD in detecting BC in hematuria patients scheduled for cystoscopy in Korean and American populations. The test seamlessly integrates two steps, linear target enrichment, and quantitative methylation-specific PCR within a single closed tube. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 25, 2024 Category: Pathology Authors: Bo-Ram Bang, Jin Zhong, Tae Jeong Oh, Ji Yong Lee, Yangyei Seo, Min A. Woo, Jae Sung Lim, Yong Gil Na, Ki Hak Song, Ju Hyun Shin, Justin Junguek Lee, Chan Su Im, Seoyong Kim, Safedin Beqaj, Joseph D. Shirk, Katelyn W. Ke, John Vallone, Sungwhan An Tags: Regular Article Source Type: research
Performance Characteristics of a Real-Time PCR assay for Direct Detection of Streptococcus pneumoniae in Clinical Specimens
Community-acquired pneumonia and complications, such as bacteremia and meningitis due to Streptococcus pneumoniae infection, still occur in at-risk populations, despite the availability of effective vaccines. Laboratory confirmation of S. pneumoniae remains challenging despite advances in blood culture techniques and the availability of nucleic acid amplification tests. The goal of this study was to determine the performance characteristics of a molecular assay designed as a diagnostic test using primary clinical specimens for invasive pneumococcal disease. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 24, 2024 Category: Pathology Authors: Subathra Marimuthu, Rocio Belen Damiano, Leslie A. Wolf Tags: Regular Article Source Type: research
Targeted linked-read sequencing for direct haplotype phasing of parental GJB2/SLC26A4 alleles: A universal and dependable noninvasive prenatal diagnosis method applied to autosomal recessive nonsyndromic hearing loss in at-risk families
Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) has been rarely reported until recent years. However, the previous method could not be performed on challenging genome loci (e.g. CNVs, deletions, inversions, or gene recombinants) or on families without proband genotype. Here, this study assesses the performance of relative haplotype dosage analysis (RHDO)-based NIPD for identifying fetal genotyping in pregnancies at risk of ARNSHL. Fifty couples carrying pathogenic variants associated with ARNSHL in either GJB2 or SLC26A4 were recruited. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 23, 2024 Category: Pathology Authors: Bo Gao, Yi Jiang, Mingyu Han, Xiaowen Ji, Dejun Zhang, Lihua Wu, Xue Gao, Shasha Huang, Chaoyue Zhao, Yu Su, Suyan Yang, Xin Zhang, Na Liu, Lu Han, Lihai Wang, Lina Ren, Jinyuan Yang, Jian Wu, Yongyi Yuan, Pu Dai Tags: Regular Article Source Type: research
Editorial Board
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 17, 2024 Category: Pathology Source Type: research
Table of Contents
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 17, 2024 Category: Pathology Source Type: research
Cost-effective and scalable clonal hematopoiesis assay provides insight into clonal dynamics
In this study, an affordable ( ∼$8 per sample), accurate, and scalable sequencing assay for CHIP is introduced and validated. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 6, 2024 Category: Pathology Authors: Taralynn Mack, Caitlyn Vlasschaert, Kelly von Beck, Alexander J. Silver, J. Brett Heimlich, Hannah Poisner, Henry Robert Condon, Jessica Ulloa, Andrew L. Sochacki, Travis P. Spaulding, Ashwin Kishtagari, Cosmin A. Bejan, Yaomin Xu, Michael R. Savona, Ange Tags: Regular Article Source Type: research
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies
Lymphoid malignancies are a heterogeneous group of hematological disorders characterized by a diverse range of morphologic, immunophenotypic, and clinical features. Next-generation sequencing (NGS) is increasingly being applied to delineate the complex nature of these malignancies and identify high-value biomarkers with diagnostic, prognostic, or therapeutic benefit. However, there are various challenges in using NGS routinely to characterize lymphoid malignancies, including pre-analytic issues, such as sequencing DNA from formalin-fixed, paraffin-embedded tissue, and optimizing the bioinformatic workflow for accurate vari...
Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Cody J. Artymiuk, Shubham Basu, Tejaswi Koganti, Pratyush Tandale, Jagadheshwar Balan, Michelle A. Dina, Emily G. Barr Fritcher, Xianglin Wu, Taylor Ashworth, Rong He, David S. Viswanatha Tags: Regular article Source Type: research
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent
We reported pathogenic or likely pathogenic variants in 280 of 833 cases with a diagnostic yield of 33.6%. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darv Tags: Regular article Source Type: research
Focused Exome Sequencing Gives a High Diagnostic Yield in The Indian Sub-Continent
We reported pathogenic or likely pathogenic variants in 280 out of 833 cases with a diagnostic yield of 33.6%. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darv Tags: Regular Article Source Type: research
Clinical Validation of a Targeted Next Generation Sequencing Panel for Lymphoid Malignancies
Lymphoid malignancies are a heterogeneous group of hematological disorders characterized by a diverse range of morphological, immunophenotypic and clinical features. Next generation sequencing (NGS) is increasingly being applied to delineate the complex nature of these malignancies and identify high value biomarkers with diagnostic, prognostic, or therapeutic benefit. However, there are various challenges in using NGS routinely to characterize lymphoid malignancies including pre-analytic issues such as sequencing DNA from formalin-fixed paraffin-embedded tissue and optimizing the bioinformatic workflow for accurate variant...
Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Cody J. Artymiuk, Shubham Basu, Tejaswi Koganti, Pratyush Tandale, Jagadheshwar Balan, Michelle A. Dina, Emily G. Barr Fritcher, Xianglin Wu, Taylor Ashworth, Rong He, David S. Viswanatha Tags: Regular Article Source Type: research
In Vitro Functional Analysis Can Aid Precision Diagnostics of Hepatocyte Nuclear Factor 1B Maturity-Onset Diabetes of the Young
Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of hepatocyte nuclear factor (HNF) 1B maturity-onset diabetes of the young, caused by pathogenic variants in the HNF1B gene, is important for optimal disease management and prognosis, and it has implications for genetic counseling and follow-up of at-risk family members. In the present study, the hypothesis is that the functional characterization could provide valuable information to assist the interpretation of pathogenicity of HNF1B variants. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 2, 2024 Category: Pathology Authors: Aishwarya Pavithram, Haichen Zhang, Kristin A. Maloney, Monika Ringdal, Alba Kaci, J ørn V. Sagen, Jeffrey Kleinberger, Linda J.B. Jeng, Pål R. Njølstad, Toni I. Pollin, Janne Molnes, Bente B. Johansson Tags: Regular article Source Type: research
In vitro functional analyses can aid precision diagnostics of HNF1B-MODY
Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of HNF1B-MODY, caused by pathogenic variants in the HNF1B gene, is important for optimal disease management and prognosis, and has implications for genetic counseling and follow-up of at-risk family members. In the present study, the hypothesis is that the functional characterization could provide valuable information to assist the interpretation of pathogenicity of HNF1B variants. Using different in vitro functional assays, seven variants were analyzed identified among 313 individuals suspected to have monogenic d...
Source: Journal of Molecular Diagnostics - April 2, 2024 Category: Pathology Authors: Aishwarya Pavithram, Haichen Zhang, Kristin A. Maloney, Monika Ringdal, Alba Kaci, J ørn V. Sagen, Jeffrey Kleinberger, Linda J.B. Jeng, Pål R. Njølstad, Toni I. Pollin, Janne Molnes, Bente B. Johansson Tags: Regular Article Source Type: research
The Application of Knowledge Engineering via the use of a Biomimetic Digital Twin Ecosystem, Phenotype Driven Variant Analysis, and Exome Sequencing to Understand the Molecular Mechanisms of Disease
Applied Artificial Intelligence, particularly Large Language Models, in biomedical research is accelerating, but effective discovery and validation requires a toolset without limitations or bias. On January 30, 2023, the National Academies of Sciences, Engineering, and Medicine (NAS) appointed an ad hoc committee to identify needs and opportunities to advance the mathematical, statistical, and computational foundations of digital twins in applications across science, medicine, engineering, and society. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - March 29, 2024 Category: Pathology Authors: William G. Kearns, J Georgios Stamoulis, Joseph Glick, Lawrence Baisch, Andrew Benner, Dalton Brough, Luke Du, Bradford Wilson, Laura Kearns, Nicholas Ng, Maya Seshan, Raymond Anchan Tags: Technical Advance Source Type: research
Clinical Implementation of a Noninvasive, Multi-Analyte Droplet Digital PCR Test to Screen for Androgen Receptor Alterations
Recent studies have shown that alterations of the androgen receptor (AR) are associated with resistance to AR-directed therapy in prostate cancer. Thus, it is crucial to develop robust detection methods for AR alterations as predictive biomarkers to enable applicability in clinical practice. We designed and validated five multiplex droplet digital PCR assays for reliable detection of 12 AR targets including AR amplification, AR splice variant 7, and 10 AR hotspot mutations, as well as AR and KLK3 gene expression from plasma-derived cell-free DNA and cell-free RNA. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - March 22, 2024 Category: Pathology Authors: Regina Stitz, Franz Stoiber, Ren è Silye, Georgios Vlachos, Silvia Andaloro, Elisabeth Rebhan, Michael Dunzinger, Franz Pühringer, Caroline Gallo, Amin El-Heliebi, Ellen Heitzer, Cornelia Hauser-Kronberger Tags: Regular article Source Type: research
Clinical Implementation of a Non-Invasive, Multi-Analyte ddPCR Test to Screen for Androgen Receptor Alterations
Recent studies have shown that alterations of the androgen receptor (AR) are associated with resistance to AR-directed therapy in prostate cancer. Thus, it is crucial to develop robust detection methods for AR alterations as predictive biomarkers to enable applicability in clinical practice. We designed and validated five multiplex droplet digital PCR (ddPCR) assays for reliable detection of 12 AR targets including AR amplification, AR-V7 and 10 AR hotspot mutations as well as AR and KLK3 gene expression from plasma derived cell-free (cf)DNA and cfRNA. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - March 22, 2024 Category: Pathology Authors: Regina Stitz, Franz Stoiber, Ren è Silye, Georgios Vlachos, Silvia Andaloro, Elisabeth Rebhan, Michael Dunzinger, Franz Pühringer, Caroline Gallo, Amin El-Heliebi, Ellen Heitzer, Cornelia Hauser-Kronberger Tags: Regular Article Source Type: research
