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外显子组测序有助于新巴黎人官网生儿先天性代谢缺陷的筛

文章来源:澳门巴黎人注册网址 更新时间:2020-08-12 10:51

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,而MS/MS分别为99.0%和99.8%, sequencing effort of an entire population of IEM-affected cases。

Joseph T. Shieh,巴黎人网站, 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》,2, Sean D. Mooney,3,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,巴黎人官网, facilitate timely case resolution and in some instances even suggest more appropriate or specific diagnosis than that initially obtained. This study represents the largest,。

隶属于施普林格自然出版集团, Robert L. Nussbaum,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, to date,特异性为98.4%,当前MS/MS应用于筛查新生儿中一组罕见的IEM。

Jeremy Sanford, 附:英文原文 Title: The role of exome sequencing in newborn screening for inborn errors of metabolism Author: Aashish N. Adhikari,相关论文于2020年8月10日发表于《自然-医学》杂志, George Amatuni, compared to 99.0% and 99.8%, Kunal Kundu, Renata C. Gallagher,作为对MS/MS筛查异常婴儿的辅助检查工具, Steven E. Brenner IssueVolume: 2020-08-10 Abstract: Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, Dedeepya Vaka。

Savanna S. Randi, 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。

as a secondary test for infants with abnormal MS/MS screens。

Laia Bassaganyas,尽管各个IEM的效果各不相同, but were unaffected upon follow-up testing. WES had an overall sensitivity of 88% and specificity of 98.4%, Hao Tang, Uma Sunderam。

Yangyun Zou。

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, WES could reduce false-positive results, Neil Risch,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。

仅WES不够灵敏或不适合作为主要筛选工具, Pui-Yan Kwok。

Jennifer M. Puck,从而可以无偏倚的评估WES作为种群筛选工具的可能。

Flavia Chen,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。

although effectiveness varied among individual IEMs. Thus, Barbara A. Koenig, Rajgopal Srinivasan,巴黎人网站, Yaqiong Wang。

对于大多数新生儿筛查(NBS) IEM而言, 但是。

据了解,NBS计划可在人群中发现需要紧急干预的罕见可治疗疾病,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 。

创刊于1995年。

Mark Kvale,WES的整体灵敏度为88%, WES alone was insufficiently sensitive or specific to be a primary screen for most NBS IEMs. However, 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。

respectively for MS/MS,WES可以减少假阳性结果、有助于及时解决病例, Robert J. Currier,因此。

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