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Next-Generation Sequencing-Based Clonality Assessment of Ig Gene Rearrangements A Multicenter Validation Study by EuroClonality-NGS

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (9)

Ig gene (IG) donality analysis has an important role in the distinction of benign and malignant B-cell lymphoid proliferations and is mostly performed......

Noninvasive Detection of Hepatocellular Carcinoma with Circulating Tumor DNA Features and a-Fetoprotein

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (9)

Liver cancer is the fifth-most common cancer worldwide, with the third-highest rate of cancer-related mortality. Hepatocellular carcinoma (HCC) is the......

Sample-to-Answer and Routine Real-Time RT-PCR A Comparison of Different Platforms for SARS-CoV-2 Detection

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (6)

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is spreading all over the world and has caused millions of deaths. Several sample-to-answ......

Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (6)

We compared chromosomal mosaicism, detected by next-generation sequencing (NGS), during preimplantation genetic testing (PGT) with that detected by si......

Clinically Responsive Genomic Analysis Pipelines Elements to Improve Detection Rate and Efficiency

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (7)

Massively parallel sequencing has markedly improved mendelian diagnostic rates. This study assessed the effects of custom alterations to a diagnostic ......

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (9)

The aim of the study was to assess the clinical utility of a third-generation sequencing (TGS) approach termed comprehensive analysis of thalassemia a......

A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (7)

Clinical genetic testing readily detects germline genetic variants. Yet, the rarity of individual variants limits the evidence available for variant c......

Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (4)

The genetic diagnosis of tuberous sclerosis complex is difficult because of its broad spectrum of mutations. In addition to point mutations in coding ......

Comparison of Seven Commercial Severe Acute Respiratory Syndrome Coronavirus 2 Nucleic Acid Detection Reagents with Pseudovirus as Quality Control Material

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (3)

The ongoing pandemic of coronavirus disease 2019 threatens the whole world, which catalyzes a variety of severe acute respiratory syndrome coronavirus......

Generating in Silico Reference Data Sets for Clinical Next-Generation Sequencing Bioinformatics Pipeline Evaluation

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (3)

Next-generation sequencing is increasingly being adopted as a valuable method for the detection of somatic variants in clinical oncology. However, it ......

Multicenter Evaluation of Xpert Carba-R Assay for Detection and Identification of the Carbapenemase Genes in Rectal Swabs and Clinical Isolates

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (1)

Rapid detection of carbapenemase-producing organisms is clinically desirable for hospital infection control and antibiotic stewardship. In this multic......

A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (1)

Carrier screening involves detection of carrier status for genes associated with recessive conditions. A negative carrier screening test result bears ......

UriBLAD A Urine-Based Gene Expression Assay for Noninvasive Detection of Bladder Cancer

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (1)

Bladder cancer is the most common urinary system neoplasm, with approximately 550,000 new cases per year worldwide. Current methods for diagnosis and ......

A One-Pot CRISPR/Cas9-Typing PCR for DNA Detection and Genotyping

期刊: JOURNAL OF MOLECULAR DIAGNOSTICS, 2021; 23 (1)

Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated endonuclease Cas9 (Cas9) has high specificity to its target DNA a......

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