Application of a Sanger-Based External Quality Assurance Strategy for the Transition of HIV-1 Drug Resistance Assays to Next Generation Sequencing

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Application of a Sanger-Based External Quality Assurance Strategy for the Transition of HIV-1 Drug Resistance Assays to Next Generation Sequencing

The Nationwide Institute of Allergy and Infectious Ailments (NIAID) Virology High quality Assurance (VQA) established a sturdy proficiency testing program for Sanger sequencing (SS)-based HIV-1 drug resistance (HIVDR) testing in 2001. Whereas most of the classes discovered through the growth of such applications may additionally apply to subsequent technology sequencing (NGS)-based HIVDR assays, challenges stay … Read more

Next Generation Sequencing Reveals a Synchronous Trilateral Lung Adenocarcinoma Case with Distinct Driver Alterations of EGFR 19 Deletion or EGFR 20 Insertion or EZR-ROS1 Fusion

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Next Generation Sequencing Reveals a Synchronous Trilateral Lung Adenocarcinoma Case with Distinct Driver Alterations of EGFR 19 Deletion or EGFR 20 Insertion or EZR-ROS1 Fusion

Goal: Synchronous a number of main lung most cancers (SMPLC) has a reported incidence from 0.5% to 2% in lung most cancers, and the surgical remedy and prognosis had been fairly numerous. With the invention of driver mutations in lung adenocarcinoma (ADC), next-generation sequencing (NGS) would offer an specific reply to the important thing query, whether … Read more

A highly sensitive method for the detection of recombinant PERV-A/C env RNA using next generation sequencing technologies

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A highly sensitive method for the detection of recombinant PERV-A/C env RNA using next generation sequencing technologies

A number of xenogenic cell-based therapeutic merchandise are at present beneath improvement around the globe for the therapy of human illnesses. Porcine islet cell merchandise for treating human diabetes are a typical instance. Since porcine cells possess endogenous retrovirus (PERV), which may replicate in human cells in vitro, the potential transmission of PERV has raised … Read more

Assessment of Minimal Residual Disease by Next Generation Sequencing in Peripheral Blood as a Complementary Tool for Personalized Transplant Monitoring in Myeloid Neoplasms

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Assessment of Minimal Residual Disease by Next Generation Sequencing in Peripheral Blood as a Complementary Tool for Personalized Transplant Monitoring in Myeloid Neoplasms

Sufferers with myeloid neoplasms who relapsed after allogenic hematopoietic stem cell transplant (HSCT) have poor prognosis. Monitoring of chimerism and particular molecular markers as a surrogate measure of relapse isn’t all the time useful; subsequently, improved techniques to detect early relapse are wanted. We hypothesized that the usage of subsequent technology sequencing (NGS) may very … Read more

Next-generation Sequencing of Cerebrospinal Fluid for the Diagnosis of Unexplained Central Nervous System Infections

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Next-generation Sequencing of Cerebrospinal Fluid for the Diagnosis of Unexplained Central Nervous System Infections

Background: Central nervous system infections trigger important morbidity and mortality in pediatric sufferers. Nevertheless, in roughly half of the scientific circumstances, the etiology is unidentified. As an unbiased molecular diagnostic know-how, next-generation sequencing is steadily being utilized to analyze central nervous system infections. This evaluate summarizes and critiques the literature on this new know-how for etiologic … Read more

Development and validation of next generation sequencing based 35-gene hereditary cancer panel.

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Understanding the genetic basis of cancer risk is an international effort. The advent of next-generation sequencing (NGS) in late 2000 has further accelerated the discovery of many cancer susceptibility genes. The use of targeted NGS-panel multigene testing to provide a comprehensive analysis of cancer susceptibility genes has proven to be a viable option, with accurate and robust detection of clinically relevant variants in targeted gene into crucial.We has been developed and validated tests are targeted based NGS for risk assessment of hereditary cancer using Illumina NGS Platform by analyzing the protein-coding regions of 35 genes hereditary cancer with bioinformatics pipeline that utilize standard practice in the field. 35-offspring cancer panel is designed to identify the gene germline mutations cause cancer to 8 different cancers: breast, ovary, prostate, uterus, colon, pancreatic, gastric cancer and melanoma. Panel validated using DNA specimens were characterized [NIGMS Human Genetic Cell Repository], where the DNA was extracted using the blood of individual genetic variants had previously been characterized by the Genome Project in 1000 and Coriell Catalog.The 35-gene panel hereditary cancer showed high sensitivity (99.9%) and specificity (100%) in 4820 variants including single nucleotide variants (SNVs) and small insertions and deletions (INDEL; up to 25 bp). Reproducibility and repeatability is 99.8 and 100%, respectively.The use of NGS targeted based multigene test panel to provide a comprehensive analysis of cancer susceptibility genes has been considered as a viable option. In this study, we developed and validated a 35-gene panel for testing eight common cancers using next-generation sequencing (NGS). Our descent cancer panel performance rated on the board of numerous variants in 35 genes to support the clinical use.

Understanding the genetic basis of cancer risk is an international effort. The advent of next-generation sequencing (NGS) in late 2000 has further accelerated the discovery of many cancer susceptibility genes. The use of targeted NGS-panel multigene testing to provide a comprehensive analysis of cancer susceptibility genes has proven to be a viable option, with accurate … Read more

Clinical application and evaluation of metagenomic next-generation sequencing in suspected adult central nervous system infection.

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accurate etiologic diagnosis is essential for infection of the central nervous system (CNS infections). The diagnostic value of metagenomic sequencing generation (mNGS), a powerful platform that appears, remains to be studied in the CNS infections.We conduct a prospective cohort study comparing single-center for mNGS with conventional methods including culture, smear and others 248 suspected CNS infectious patients were enrolled and clinical data were recorded. RESULTS mNGS reported a sensitivity of 90.00% (9/10) in patients with culture-positive without empirical treatment and 66.67% (6/9) in patients treated empirically. Detected addition of 48 bacteria and fungi in culture-negative patients, mNGS provide higher detection rate compared with culture in patients with (34.45% vs. 7.56%, McNemar test, p 0.0083). Compared with the conventional method, the positive percent agreement and negative percent agreement was 75.00% and 69.11% separately. mNGS detection rate was significantly higher in patients with cerebrospinal fluid (CSF) WBC> 300 * 106 / L, CSF protein> 500 mg / L or glucose ratio ≤ 0.3. mNGS sequencing reads correlated with CSF WBC, the ratio of glucose and the development of clinical disease. mNGS showed satisfactory diagnostic performance in CNS infections and has a superior detection rate overall culture. mNGS probably held diagnostic benefit, especially in patients treated empirically. CSF laboratory results are statistically relevant mNGS detection rate, and mNGS can dynamically monitor the progression of the disease.

accurate etiologic diagnosis is essential for infection of the central nervous system (CNS infections). The diagnostic value of metagenomic sequencing generation (mNGS), a powerful platform that appears, remains to be studied in the CNS infections. We conduct a prospective cohort study comparing single-center for mNGS with conventional methods including culture, smear and others 248 suspected … Read more

Efficacy of platinum in advanced triple-negative breast cancer with germline BRCA mutation determined by next generation sequencing.

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objectiveTo compare the efficacy of platinum and non-platinum-based regimens as first-line treatment for triple-negative breast cancer is advanced (TNBC) and analyze the relationship between their success and status of the BRCA genes. methodRetrospectively analyzed clinical data from 220 patients diagnosed with advanced pathological TNBC and treated in the Department of Breast Oncology, Peking University Cancer … Read more