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A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia
Friedreich ataxia (FRDA) is an autosomal recessive, progressive degenerative disease caused by an expansion of a guanine-a...
Validation of Whole Genome Methylation Profiling Classifier for Central Nervous System Tumors
Figure 1Clustering of 2801 reference central nervous system (CNS) tumor samples using t-Distributed Stochastic Neighbor Em...
Comprehensive Analysis of Spinal Muscular Atrophy
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, Chin...
Diagnostic Value and Cost-Effectiveness of Next Generation Sequencing–Based Testing for Treatment of Patients with Advanced/Metastatic Non-Squamous Non-Small Cell Lung Cancer in the United States
The study evaluated the diagnostic value and cost-effectiveness of next generation sequencing (NGS)-based testing versus v...
The Molecular Genetic Pathology Fellowship Curriculum: time for evolution?
In the late 1980s molecular biologic methods had matured sufficiently to allow us to begin to unlock the basis for many di...
Droplet Digital PCR
Nunes V. Cazzaniga G. Biondi A. An update on PCR use for minimal residual disease monitoring in acute lymphoblastic leukem...
Alignment of Fellowship Training with Practice Patterns for Molecular Pathologists
In the two decades since Accreditation Council for Graduate Medical Education (ACGME)–accredited Molecular Genetic Patholo...
Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels
Goodwin S. McPherson J.D. McCombie W.R. Coming of age: ten years of next-generation sequencing technologies.Nat Rev Genet....
Digital Droplet PCR Is a Reliable Tool to Improve Minimal Residual Disease Stratification in Adult Philadelphia-Negative Acute Lymphoblastic Leukemia
Currently, real-time quantitative PCR (RQ-PCR) of clonotypic Ig and T-cell receptor gene rearrangements is the most widely...
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OhioDepartment of ...
Utility of Epstein-Barr Viral Load in Blood for Diagnosis and Predicting Prognosis of Lymphoma
In this study, we compared the clinical utility of whole blood EBV RQ-PCR and EBER-ISH for evaluation of patients with dif...
High-Throughput Variant Detection Using a Color-Mixing Strategy
Neiman M. Sundling S. Grönberg H. Hall P. Czene K. Lindberg J. Klevebring D. Library preparation and multiplex capture for...
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer
FootnotesThe authors received no specific funding for this work.Disclosures: The Idylla prototype cartridges were provided...
Comprehensive Validation of Diagnostic Next-Generation Sequencing Panels for Acute Myeloid Leukemia Patients
Arber D.A. Orazi A. Hasserjian R. Thiele J. Borowitz M.J. Le Beau M.M. Bloomfield C.D. Cazzola M. Vardiman J.W. The 2016 r...
Validation of a DNA-Based Next-Generation Sequencing Test for Molecular Diagnostic Variant and Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tissue Specimens and Liquid Biopsy Plasma/Cell-Free DNA Samples
Bosse T. Davidson B. Euscher E.D. Liu C.R. Lortet-Tieulent J. Rasollini M.R. Singh N. Tumours of the uterine corpus—endome...
Improving Fetal Fraction of Noninvasive Prenatal Screening Samples Collected in EDTA-Gel Tubes Using Gel Size Selection
The objective of this study was to compare the use of EDTA-gel blood collection tubes with and without size selection to c...
miRNAs as molecular biomarkers for prostate cancer
Behm-Ansmant I, Rehwinkel J, Izaurralde E: MicroRNAs silence gene expression by repressing protein expression and/or by pr...
Between laboratory reproducibility of DNA extraction from human blood and fresh frozen tissue
Standardisation of molecular diagnostics is fundamental for effective application of genetic analyses in p...
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows:A Report of the Association for Molecular Pathology Training and Education Committee
Tucker T. Marra M. Friedman J.M. Massively parallel sequencing: the next big thing in genetic medicine.Am J Hum Genet. 85:...
Use of treatment focused tumor sequencing to screen for germline cancer predisposition
Jackson S.E. Chester J.D. Personalised cancer medicine.Int J Cancer. 137: 262-266Coit D.G. Thompson J.A. Albertini M.R. Ba...
Clinical Impact of Metagenomic Next-generation Sequencing of Bronchoalveolar Lavage in the Diagnosis and Management of Pneumonia: A Multicenter Prospective Observational Study
Department of Infectious Diseases, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, ...
Development and Performance of a CD8 Gene Signature for Characterizing Inflammation in the Tumor Microenvironment Across Multiple Tumor Types
IntroductionImmune checkpoint inhibitors (ICIs) targeting the programmed death-1/programmed death ligand 1 (PD-1/PD-L1) ax...
Concordance analysis of ALK gene fusion detection methods in patients with Non–Small-Cell Lung Cancer from Chile, Brazil, and Peru
FootnotesG.S.-H. and M.F. contributed equally to this work.Current address of G.S.-H., Thermo Fisher Scientific, Av. Marat...
Next-Generation Sequencing panel for 1p/19q codeletion and IDH1-IDH2 mutational analysis uncovers mistaken overdiagnoses of 1p/19q codeletion by FISH
Louis DN, Ohgaki H, Wiestler OD, Cavenee WK: WHO classification of tumours of the central nervous system, 4th ed, 2016.Bra...
Next generation sequencing-based clonality assessment of immunoglobulin gene rearrangements: a multicenter validation study by EuroClonality-NGS
DiscussionIn this biological validation study of NGS-based IG clonality testing, we show that NGS-based IG clonality and c...
Non-invasive detection of hepatocellular carcinoma with circulating tumor DNA features and Alpha-fetoprotein
Bray F. Ferlay J. Soerjomataram I. Siegel R.L. Torre L.A. Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of in...
Performance assessment of the Devyser high-throughput sequencing-based assay for chimerism monitoring in patients after allogeneic hematopoietic stem cell transplantation
Bader P. Niethammer D. Willasch A. Kreyenberg H. Klingebiel T. How and when should we monitor chimerism after allogeneic s...
Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and European Society for Pharmacogenomics and Personalized Therapy
*7No functionrs50308672935A>C2936A>Cg.7955A>Cg.42127856T>Gc.971A>Cp.His324ProYes0-0.6%*8No functionrs503086...
Double Drop-Off Droplet Digital PCR
Laboratory for Leukemia Diagnostics, Department of Hematology and Oncology, University Hospital, Ludwig Maximilian Univers...
Detection of gene fusion transcripts in Peripheral T-cell Lymphoma using a multiplexed targeted sequencing assay
Swerdlow S, Campo E, Harris N.L, Jaffe E.S, Pileri S, Stein H, Thiele J, Arber D.A, Hasserjian R, Le Beau M.M, Orazi A, Si...
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