A Chinese Han pedigree with HLCS deficiency diagnosed using next-generation sequencing.The Chinese proband carries a reported Arg508Trp variant, a novel 2-bp frameshift mutation c.1006_1007delGA (p.Gl

NIAID Data Ecosystem60

Table 5_Identification of causative agents of infective endocarditis by metagenomic next-generation sequencing of resected valves.xlsx

感染性心内膜炎病原体检测

下一代测序诊断

BackgroundInfective endocarditis (IE) is a rare and life-threatening condition with considerable mortality rates. Diagnosis is often complicated by negative blood culture results, limiting the accurat

NIAID Data Ecosystem30

Evaluating the Potential of using Next-Generation Sequencing for Direct Clinical Diagnostics of Faecal Samples from Patients with Diarrhoea

腹泻病原体检测

下一代测序诊断

Diarrhoea is a major global disease burden and rapid, precise identification of the causative pathogens is important to initiate patient treatment and to discover and handle potential outbreaks. The c

NIAID Data Ecosystem70

A potential role of extended simple sequence repeats in competing endogenous RNA crosstalk

RNA交互

遗传性神经系统疾病

MicroRNA (miRNA)-mediated crosstalk between coding and non-coding RNAs of various types is known as the competing endogenous RNA (ceRNA) concept. Here, we propose that there is a specific variant of t

Taylor & Francis Group2019-02-13 更新40

Next generation sequencing for patients with hypomyelinating leukodystrophies

资源简介：

相关数据集