Nextgenerationsequencing相关论文
目的:总结和分析3例以无症状肾小球性蛋白尿为突出表现的n LMX1B基因相关疾病患儿临床资料，以提高临床医师对基因突变致无症状......
目的:对1个结节性硬化症(tuberous sclerosis complex, TSC)家系进行n TSC1和n TSC2基因变异分析，明确其可能的致病原因......
Current scenario of the genetic testing for rare neurological disorders exploiting next generation s
Next generation sequencing is currently a cornerstone of genetic testing in routinediagnostics, allowing for the detecti......
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Prostate cancer (PCa) exhibits epidemiological and molecular heterogeneity.Despite extensive studies of its phenotypic a......
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Nextgeneration sequencing (NGS) technologies provide a high throughput,efficient andfast DNAsequencing platform compared......
Identification and profiling of growth-related microRNAas of the swimming crab Portunus tribubercula
MicroRNAs (miRNAs) are a class of endogenous small non-coding RNAs that regulate gene expression by post transcriptional......
Next Generation Sequencing technologies increased the availability of sequence data for model and non-model forest tree ......
Flammulina velutipes is a popular edible basidiomycete mushroom found in East Asia and is commonly known as winter mushr......
Effective single nucleotide polymorphism discovery in common wheat transcriptome using haplotypes in
Wheat is one of the most important crops for human and the most widely grown crop.However, the amount of molecular marke......
Next-Generation Sequencing Panels for the Germline Mutations of Chinese patients with Polyposis Synd
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Objective Assessing clonal origins of multiple lung cancers is a clinical dilemma,which may represent multiple primary l......
Somatic mutation spectrum in Lynch-associated and sporadic colorectal cancer with deficient mismatch
Objective Colorectal cancer(CRC),most frequently,results from the defects of Wnt signaling pathway.In addition,abnormall......
Pathogenic and Targetable Genetic Alterations in Resected Recurrent Undifferentiated Pleomorphic Sar
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Objective Utilization of next generation sequencing(NGS) to profile tumor sample or biopsy for genetic variations potent......
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Background: The majority driven mutation of GIST are located in KIT and PDGFRA. A proportion of the remaining 10% of GIS......
UnipicKTM: capillary-based vacuum-assisted instrument for rapid and efficient collection of single c
Cell specific studies are essential for basic and translational research in cell biology.Collecting single or individual......
A new method for identifying common regulatory variants of neuropsychiatric disorder candidate genes
Objective Allelic expression imbalance (AEI) assays are a sensitive method for detecting genetically regulated expressio......
High-throughput development of mapped SSR markers from pea(Pisum sativum L.) based on next generatio
Pea (Pisum sativum L.) is an important food legume in the world, and the plant species that J.G Mendel used to lay the f......
Integration of genome and transcriptome traces evolutionary trajectory underlying chicken domesticat
The evolutionary dynamics underlying domestication and rapid adaptation for animal and plant are of significance.Chicken......
Genomic characterization of a Helicobacter pylori isolate from a patient with gastric cancer in Chin
Background: Helicobacter pylori is well known for its relationship with the occurrence of several severe gastric disease......
Objective: 46,XY complete gonadal dysgenesis (46,XY CGD),previous nominated as XY sexreversa,is a rare disorder marked b......
Effective single nucleotide polymorphism discovery in common wheat transcriptome using haplotype inf
Wheat is one of themost important crops for human and the most widely grown crop.However, the amount of molecular marker......
Introduction It was found that 70–80%of patients with myelodysplastic syndrome(MDS)have at least one mutation.Gene muta......
An Empirical Bayes Method for Genotyping and SNP Detection Using Multi-sample Next-generation Sequen
The development of next generation sequencing technology provides an efficient and powerful approach to rare variant det......
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Application of next generation sequencing technology on contamination monitoring in microbiology lab
The surveillance and prevention of pathogenic microbiological contamination are the most important tasks of biosafety ma......
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Implementing comprehensive genetic carrier screening in China—Harnessing the power of genomic medici
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目的:旨在采用二代测序（NGS）的技术平台检测肝细胞癌（HCC）组织样本中肿瘤抑制基因第10号染色体缺失的磷酸酶和张力蛋白同源等位基因（n ......
遗传因素是出生缺陷发生的主要原因。通过对基因组学领域的深入研究以及应用分子生物学技术，在健全的出生缺陷三级预防体系下，从孕前......
Development of a cost-effective skimmed NGS technology to deduce the complete mitogenome and plastid
The total number of species in the world has been estimated to over 874 million.To explore the phylogenetic and evol......
However identification on the species level is difficult, time consuming and needs in-depth knowledge of the organisms u......
Background: The rapid development of next generation sequencing technology is changing the way of biological researc......
Cancer is the term for a collection of various malignant tumor, and has different clinical response based on its tis......
竹是亚洲地區重要的經濟作物。到目前為止，其基因組等相關的研究仍不似其他模式植物先進，在先前的研究中我们可以利用組織培養的......
Background: Small insertions and deletions (INDELs) compose of the second largest category of genetic variants (next......
Background: Next Generation Sequencing (NGS) methodology has dramatically increased the sequencing datasets and enab......
目的:对1例结节性硬化症患者进行基因变异分析，明确其可能的致病原因。方法:收集患者及父母的外周血，提取基因组DNA，应用高通量测序对......
目的:对1个家族性腺瘤性息肉病家系成员进行基因变异分析，明确其可能的致病原因。方法:应用二代测序技术对先证者进行基因检测，应用S......
目的研究1例糖原累积病Ⅳ型(GSDⅣ)患者及其家系的基因突变情况。方法患儿,女,1岁5个月,因轻度黄疸,肝脾肿大2月,生长迟缓1年就诊......
Differential DNA methylation profiles of human B lymphocytes and Epstein-Barr virus-immortalized B l
Objective:This study aimed to comprehensively assess Epstein-Barr virus (EBV)-induced methylation alterations of B cell ......
