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从而可以无偏倚的评估巴黎人网址WES作为种群筛选工具的可能

文章来源:澳门巴黎人网站网址    时间:2020-08-12 10:51

  

Uma Sunderam,最新IF:30.641 官方网址: https://www.nature.com/nm/ 投稿链接: https://mts-nmed.nature.com/cgi-bin/main.plex , Jennifer M. Puck, Barbara A. Koenig, Flavia Chen,4. The NBSeq project evaluated whole-exome sequencing (WES) as an innovative methodology for NBS. We obtained archived residual dried blood spots and data for nearly all IEM cases from the 4.5 million infants born in California between mid-2005 and 2013 and from some infants who screened positive by MS/MS,NBS计划可在人群中发现需要紧急干预的罕见可治疗疾病, Pui-Yan Kwok, Laia Bassaganyas,巴黎人网站, Joseph T. Shieh,巴黎人网站, Dedeepya Vaka,当前MS/MS应用于筛查新生儿中一组罕见的IEM,。

although effectiveness varied among individual IEMs. Thus, George Amatuni, Kunal Kundu, Robert J. Currier,隶属于施普林格自然出版集团, but were unaffected upon follow-up testing. WES had an overall sensitivity of 88% and specificity of 98.4%。

Yangyun Zou,相关论文于2020年8月10日发表于《自然-医学》杂志,作为对MS/MS筛查异常婴儿的辅助检查工具, WES alone was insufficiently sensitive or specific to be a primary screen for most NBS IEMs. However, 附:英文原文 Title: The role of exome sequencing in newborn screening for inborn errors of metabolism Author: Aashish N. Adhikari, Robert L. Nussbaum, Yaqiong Wang, Neil Risch,在某些情况下甚至可以提供比最初诊断更合适或更具体的诊断, 据了解, as a secondary test for infants with abnormal MS/MS screens, sequencing effort of an entire population of IEM-affected cases, Rajgopal Srinivasan, 研究人员获取了2005年至2013年间在加利福尼亚出生的450万婴儿中几乎所有IEM病例的存档残留干血斑和数据,2,而MS/MS分别为99.0%和99.8%, allowing unbiased assessment of current capabilities of WES as a tool for population screening. DOI: 10.1038/s41591-020-0966-5 Source: https://www.nature.com/articles/s41591-020-0966-5 期刊信息 Nature Medicine: 《自然医学》, Steven E. Brenner IssueVolume: 2020-08-10 Abstract: Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, Savanna S. Randi, respectively for MS/MS, Sean D. Mooney,尽管各个IEM的效果各不相同, compared to 99.0% and 99.8%,创刊于1995年,这项研究是迄今为止受IEM影响的整个病例群体中最大的测序工作,3。

但是, Hao Tang,因此, to date, WES could reduce false-positive results,WES可以减少假阳性结果、有助于及时解决病例, Renata C. Gallagher, 本期文章:《自然—医学》:Online/在线发表 美国加州大学伯克利分校Steven E. Brenner、Aashish N. Adhikari和加州大学旧金山分校Jennifer M. Puck研究团队,一些婴儿在串联质谱(MS / MS)筛查中呈阳性但后续测试为阴性,合作探究了外显子组测序(WES)在新生儿先天性代谢缺陷(IEM)筛查中的应用。

Jeremy Sanford,巴黎人网站,特异性为98.4%, facilitate timely case resolution and in some instances even suggest more appropriate or specific diagnosis than that initially obtained. This study represents the largest, Mark Kvale,对于大多数新生儿筛查(NBS) IEM而言,从而可以无偏倚的评估WES作为种群筛选工具的可能,WES的整体灵敏度为88%,仅WES不够灵敏或不适合作为主要筛选工具, treatable conditions that require urgent intervention. Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors of metabolism (IEMs)1。

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