利用下一代测序技术进行孟德尔疾病基因检测的当前方案
C Di Resta, GB Pipitone, P Carrera… - 中国神经再生研究(英文版), 2021 - sjzsyj.com.cn
… , allowing for the detection of sequence variants with so far … state of next generation sequencing
diagnostic testing for … In the first section of this review, advantages of the three different …
diagnostic testing for … In the first section of this review, advantages of the three different …
Monogenic diabetes: Implementation of translational genomic research towards precision medicine: 单基因糖尿病: 应用翻译基因组研究朝精准医疗迈进
M Vaxillaire, P Froguel - Journal of Diabetes, 2016 - Wiley Online Library
… , CA, USA) sequencing has great performance and advantages to accurately detect all the
causal … or almost complete genome sequencing, which has the potential of discovering new …
causal … or almost complete genome sequencing, which has the potential of discovering new …
基于遗传背景对儿童DCM 精准诊断的研究进展
郑奎, 张英谦 - 心脏杂志, 2023 - heartj.cn
… 60%~80% 相比还值得 进一步研究[3,4],将来随着全基因组测序(wholegenome sequencing,WGS)或
第三代基因检测技术的 广泛应用可能会提高其遗传诊断阳性率,包括一些 隐性基因的发现. …
第三代基因检测技术的 广泛应用可能会提高其遗传诊断阳性率,包括一些 隐性基因的发现. …
[HTML][HTML] 非免疫性胎儿水肿综合征的遗传学因素及妊娠结局分析
丁丽娜, 高智霖, 张慧敏, 何文智… - 中华产科急救 …, 2022 - zhckjjdzzz.cma-cmc.com.cn
… analysis (CMA) or 3) whole exome sequencing (WES). The medical records … The detection
rate of CMA in NIHF is higher than … NIHF due to the ability to detect rare single-gene disorders. …
rate of CMA in NIHF is higher than … NIHF due to the ability to detect rare single-gene disorders. …
[HTML][HTML] 宏基因组二代测序在疑难感染性疾病中的临床应用价值
韩思雨 - Chinese Journal of Contemporary Pediatrics, 2022 - ncbi.nlm.nih.gov
… 二代测序(metagenomic next-generation sequencing,mNGS)作为一… sequencing (mNGS)
has a wide detection range and can … This article reviews the diagnostic advantages and clinical …
has a wide detection range and can … This article reviews the diagnostic advantages and clinical …
聚合酶γ 基因(POLG) 突变在中国汉族人口中可能罕见
杨坤芳, 孟琳懿, 张元凤, 杨永臣, 成鸿毅… - Chinese Medical …, 2021 - cmsj.cams.cn
… heterozygous mutations were not detected and VPA toxicity was … Next generation sequencing
Genomic DNA samples were … is relatively small, which limits the representativeness of our …
Genomic DNA samples were … is relatively small, which limits the representativeness of our …
Rogue 基因网络在阿尔茨海默病中出了问题
… has been revolutionized by nextgeneration sequencing (NGS), … sample numbers to detect
robust disease-specific changes. … In order to combat this limitation, our group integrated the …
robust disease-specific changes. … In order to combat this limitation, our group integrated the …
产前诊断22 号染色体三体嵌合1 例并文献复习
彭亚琴, 刘文, 徐晶晶, 胡月, 宋雅娴, 何国平, 吴丽敏… - 安徽医药, 2021 - ahyyzz.cn
… methods should be combined to increase the detection of rare chromosome abnormalites.Moreover,
we should inform the limitations of the screening testing to patientsand decided by …
we should inform the limitations of the screening testing to patientsand decided by …
[HTML][HTML] 宏基因二代测序技术对脊柱感染的诊断效率及预后的影响
郭超峰, 张广, 胡小江, 徐东宬, 唐博… - Journal of Central …, 2022 - ncbi.nlm.nih.gov
… the limitations of traditional detection methods cannot be quickly and accurately diagnosed,
… Metagenomic next-generation sequencing (mNGS) is a new frontier technology emerging in …
… Metagenomic next-generation sequencing (mNGS) is a new frontier technology emerging in …
应用ddPCR 检测甲型H1N1 pdm09 流感病毒H275Y 突变研究
楼秀玉, 颜浩, 孙逸, 王欣莹, 陈寅, 茅海燕 - 预防医学, 2022 - zjyfyxzz.com
… The detection limits of ddPCR assay were 5.28 (95%CI: 4.28-… phosphate, and next-generation
sequencing detect⁃ ed 89.46… er, no H275Y mutation was detected in samples collected on …
sequencing detect⁃ ed 89.46… er, no H275Y mutation was detected in samples collected on …