نتایج جستجو برای: ngs
تعداد نتایج: 5131 فیلتر نتایج به سال:
Even though next-generation sequencing (NGS) has become an invaluable tool in molecular biology, several laboratories with NGS facilities lack trained Bioinformaticians for data analysis. Here, focusing on the variant detection application of NGS analysis, we have developed a fully automated pipeline, namely Variant Discovery and Annotation Tool-Graphical User Interface (VDAP-GUI), which detect...
Motivation Next-generation sequencing is now an established method in genomics, and massive amounts of sequencing data are being generated on a regular basis. Analysis of the sequencing data is typically performed by lab-specific in-house solutions, but the agreement of results from different facilities is often small. General standards for quality control, reproducibility and documentation are...
The predictive strength of next-generation sequencing MRD detection for relapse compared with current methods in childhood ALL Minimal residual disease (MRD) monitoring via antigen receptor quantitative polymerase chain reaction (qPCR) is an important pre-dictor of outcome in childhood acute lymphoblastic leukemia (ALL), is rigorously standardized within the EuroMRD consortium and has a greater...
background: progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. in this study, we introduce a patient with developmental regression and autism. the causative mutation was found by exome sequencing. methods: the proband showed a gener...
Next generation sequencing (NGS) has become a powerful approach in the field of infectious diseases and has revolutionized clinical microbiology and virology. However, despite the advances in these technologies, the use of NGS remains challenging for complex samples, such as ultra-low copy samples, samples with poor integrity of nucleic acids, and single cells. NGS is currently being adapted to...
ناپایداری چاه، فراخ شدگی، گیر لوله، تخلیه چاه و به شکل جدی در جهت دار در ارتباط با سازندهای شیلی است. پایداری چاه در گلهای حفاری پایه آبی، موضوعی است که با شناخت کانیهای رسی سازنده امکان پذیر است. حضور سازندهای شیلی پابده – گورپی و یا افقهای شیلی در سازند آسماری مشکلاتی را در حفاری ایجاد نموده، و لذا لزوم مطالعه و بررسی این سازندها را با اهمیت می سازد. بررسی تغییرات شیمیایی و کانی های رسی این د...
Human leukocyte antigen (HLA) typing from next generation sequencing (NGS) data has the potential for applications in clinical laboratories and population genetic studies. Here we introduce a novel technique for HLA typing from NGS data based on read-mapping using a comprehensive reference panel containing all known HLA alleles and de novo assembly of the gene-specific short reads. An accurate ...
Gene fusions are important genomic events in human cancer because their fusion gene products can drive the development of cancer and thus are potential prognostic tools or therapeutic targets in anti-cancer treatment. Major advancements have been made in computational approaches for fusion gene discovery over the past 3 years due to improvements and widespread applications of high-throughput ne...
The impact of next-generation sequencing (NGS) on the issue of return of results is defying clear policy guidance and creating international confusion. Limiting ourselves to the return of results revealed by NGS (including incidental findings) in adults, children, family members of deceased individuals, and population studies, we describe and contrast emerging policy positions in Europe, Canada...
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