copynumbervariation相关论文
目的:探讨n MECP2重复综合征患者的临床症状及遗传学来源，为家系的遗传咨询及产前诊断提供依据。n 方法:对2018年1月至201......
Copy number variation(CNV)is the most prevalent type of genetic structural variation that has been recognized as an impo......
Genome-wide copy number variations inferred from SNP genotyping arrays using a Large White and Minzh
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Rht-D1c (Rht10) carried by Chinese wheat (Triticum aestivum) line Aibian 1 is an allele at the Rht-D1 locus.Among the Rh......
Somatic Copy Number Variations in cfDNA Correlating with Intrinsic Resistances in T790M Negative Lun
Objective Lung cancer is the leading cause of cancer death worldwide.In the past decades,significant improvements have b......
Association of T-bet,GATA-3,RORC and FOXP3Copy Number Variations with Acute Anterior Uveitis with or
Background Acute anterior uveitis(AAU)is the most common form of uveitis and is a frequent ocular manifestation of ankyl......
A significant effect of TSPY1 copy number on spermatogenesis efficiency and the phenotypic expressio
Objective AZFc deletions cause significant phenotypic heterogeneity with respect to spermatogenesis; however, the reason......
Identification of copy number variations associated lncRNAs analysis reveals IncRNA-PRAL promotes ap
Recurrent genome copy number aberrations are known to be a common feature of many cancers,including hepatocellular carci......
Single pollen nucleus sequencing reveals chromosome fragmentation as a possible cause of haploid ind
Production of maternal haploids via intra-specific genotypes as the haploid inducer is routine and highly efficient in m......
Background: Pairs of gene expression profiling and CNV profiling in same cancer samples can help to identify expression ......
Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalasse
Copy number variations (CNVs) can cause many genetic disorders and the structure analysis of unknown CNVs is important f......
Objective: Ovarian cancer is the third leading cancer in women and the leading cause of death from gynecological cancer.......
variability,the rapid evolution of genomic variability in culture and a complex translation of genomic variability into ......
目的探讨无创产前检测(non-invasive prenatal testing，NIPT)对于筛查胎儿21、18、13号染色体三体及基因组拷贝数变异(copy number ......
目的分析22q11.2不同区域拷贝数变异病例的产前超声表型、拷贝数变异的亲代来源及妊娠结局，并分析基因型-表型的对应关系。方法收集......
Integration of genomes and transcriptomes traces the comprehensive mechanism underlying phenotypic d
Domestication has been served as a fascinating model to posit evolutionary theory since it was introduced by Darwin.......
Ohnologs-paralogous gene pairs generated by whole genome duplication (WGD)-are enriched for dosage sensitive genes t......
Previous studies have identified that disturbedapoptosiswas involved in the pathogenesis of Behcets disease (BD) and......
Copy number variation of a gene cluster encoding endopolygalacturonase mediates flesh texture and st
Texture is an important attribute affecting consumer perception of fruit quality.Peach melting flesh and flesh adhes......
Background: Anillin(ANLN) is required for tumor growth. It has been proven that knockdown of ANLN effectively reduces th......
Omics-based integrated analysis identified ATRX as abiomarker associated with glioma diagnosis and p
Objective: ATRX is a multifunctional protein that is tightly regulated by and implicated in transcriptional regulation a......
目的 应用多重连接探针扩增技术(MLPA)检测在ETV6/RUNX1+急性淋巴细胞白血病(ALL)患几中基因拷贝数变异的情况,并与常规经典染色体......
目前越来越多的研究表明基因拷贝数变异可参与甲状腺癌的发生、发展及转归等多个环节。脂酰肌醇-3羟基激酶/蛋白激酶B（PI3K/AKT）信号......
