next-generationsequencing相关论文
Infectionsbynonpolioenteroviruses(EVs)arehighlyprevalent,particularlyamongchildrenandneonates,wheretheymaycausesubstanti......
Legionella sainthelensi Pneumonia with Abdominal Symptoms as Prominent Manifestations: A Case Report
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目的:调查我国实验室开展血液标本微生物细胞游离DNA（mcfDNA）宏基因组高通量测序（mNGS）的检测方法及质量保证情况。方法:2020年10月向......
目的:对一个先天性无痛症(congenital insensitivity to pain，CIP)家系进行基因变异分析，以明确其病因。方法:应用二代测序对先证者......
In the era of personalized medicine, information on molecular change at the gene level is important for patient care. Su......
目的:探讨1例足月小样儿伴有消化道出血、发育落后及血小板减少患儿的遗传学病因。方法:对患儿进行临床和实验室检查，应用二代测序......
目的:对1例男性乳腺癌患者的基因组变异进行分析，为检测后的遗传咨询提供依据。方法:检测前了解家族史、医疗史，告知被检者检测潜在......
目的:探讨1例5α-还原酶2型缺乏症患儿的临床特征及基因变异特点。方法:回顾性分析患儿的临床资料，应用靶向捕获高通量测序及Sanger......
This retrospective study demonstrates the clinical outcomes of patients with nonmosaic Klinefelter\'s syndrome(KS)who ......
Archaea,one of the three domains of life along with Bacteria and Eukarya,contains ancient life forms such as methanogen ......
Use of DNA metabarcoding of bird pellets in understanding raptor diet on the Qinghai-Tibetan Plateau
Background:Diet analysis is essential to understanding the functional role of large bird species in food webs.Mor-pholog......
Objective:To investigate the relationship between gene mutations and response to Compound Qinghuang Powder(复方青黄散, C......
Background: Tomato zonate spot virus(TZSV),a dominant species of thrips-transmitted orthotospoviruses in Yunnan and Guan......
Microsatellite Development for an Endangered Bream Megalobrama pellegrini (Teleostei, Cyprinidae) Us
Megalobrama pellegrini is an endemic fish species found in the upper Yangtze River basin in China.This species has becom......
Transcriptomics-assisted Quantitative Trait Locus Fine Mapping Contributes to the Rapid Identificati
Allotetraploid rapeseed (Brassica napus L.AnAnCnCn,2n=4x=38)is highly susceptible to boron (B) deficiency,a widespread l......
Germline and Somatic Mutations of 21 Homologous Recombination Genes in Chinese Patients with Epithel
Objective This study aims to evaluate the specific genetic alterations including both somatic and germline mutations in ......
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Next-generation sequencing identified a novel WDPCP-ALK fusion sensitive to crizotinib in lung adeno
Objective Lung cancer is the leading cause of cancer-related deaths worldwide.Over 85%of lung cancers are classified as ......
Comparison of hotspot mutations between primary lung adenocarcinoma and different metastatic sites i
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Exploring of Mutational Landscape and Prognostic Factors in Intermediate-Risk Cytogenetic Acute Myel
Objective Acute myeloid leukemia(AML)is a common hematologic malignance with strong heterogeneity,different cytogenetic ......
Next-generation sequencing technologies have greatly promoted the genomic study of prokaryotes.However,highly fragmented......
Reference sequences are intended to be the definitive and best presented sequences that represent an organisms nuclear o......
Purpose Inherited retinal dystrophies(IRDs)are a group of retinal degenerations presenting significant genetic and clini......
Expression profile analysis of long non-coding RNA in HER-2 enriched subtype breast cancer by next-g
Background:Human epidermal growth factor receptor 2(HER-2) enriched subtype breast cancer is associated with a more aggr......
High tumor mutation burden based on next-generation sequencing gene panel correlates with aggressive
Objective Based on targeted next generation deep sequencing,we aimed to sketch the gene mutation footprint of hepatocell......
Validation of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplanta
Background: Aneuploidy is a leading cause of repeat implantation failure and recurrent miscarriages.Preimplantation gene......
Next-generation methylation sequencing of breast cancer candidate genes using nanofluidic-PCR prepar
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A solid tumor sample consists of mixed populations of cells,normal cells and cancer cells.Heterogeneity among cancer cel......
Background:Ruminants rely upon a complex community of microbes in their rumen to convert host-indigestible feed into nut......
Mutation profiles of classic myeloproliferative neoplasms detected by a customized next-generation s
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Advancements in next-generation sequencing for diagnosis and treatment of non-small-cell lung cancer
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目的探讨宏基因组二代测序(mNGS)技术检测支气管肺泡灌洗液(BALF)的病原微生物在异常肺部影像诊断中的临床应用价值。方法回顾性研......
Assessing the sensitivity of divergence time estimates to locus sampling,calibration points,and mode
Restriction site-associated DNA sequencing(RAD-seq)and related methods have become relatively common approaches to resol......
Although phylogenetic studies have revealed major clades,the deepest relationships in Isoetes remain unresolved.The use ......
对于不同基因位点的突变,急性髓系白血病的发病机制和治疗策略各不相同,因此精准的分子检测在急性髓系白血病的诊断中发挥至关重要......
高通量测序（next-generation sequencing，NGS）技术经过十余年的飞速发展，衍生出无创产前筛查（noninvasive prenatal testing，NIPT）、扩展......
De novo transcriptomic analysis of the female and male adults of the blood fluke Schistosoma turkest
Background: Schistosoma turkestanicum is a parasite of considerable veterinary importance as an agent of animal schi......
Genetic loci involved in controlling stem sugar and juice content in sweet sorghum (Sorghum bicolour
Sweet sorghum (Sorghum bicolor) is a natural variant of the common grain sorghum with applications in biofuel indust......
