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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...
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