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NIH公布了第一份阿尔兹海默基因组数据

  1. NIH
  2. 生物信息学
  3. 阿尔兹海默

来源:生物谷 2013-12-05 09:38

2013年12月4日讯 /生物谷BIOON/ --周一美国国立卫生研究院宣布首次向所有研究者们公开其阿尔兹海默测序计划中国的的基因组序列信息。该测序项目是2012年2月由总统签发启动的,旨在找到预防或有效治疗记忆损伤疾病的方法。周一宣布开放的数据包括来自89个具有阿兹海默症病史家庭的410份个人全基因组测序结果。该项计划最终将获得111个类似家庭的582份个人全基因组测序结果。除此之外,阿尔兹海默测序计划还将对其他11000名个体进行全外显子测序,包括6000名患者和5000名正常人对照。全外显子测序的意义在于确定人类基因组中21000多个基因的顺序。(生物谷Bioon.com)

详细英文报道:

The National Institutes of Health said Monday it has made available for researchers the first batch of genome sequence data from the Alzheimer's Disease Sequencing Project (ADSP).

Established in February 2012 by a Presidential Initiative, the ADSP is a national research project with the aim of finding ways to prevent or effectively treat the memory-stealing disease. Using large-scale genome sequencing, the National Human Genome Research Institute is spearheading the $25 million project, intended to identify a broad range of Alzheimer's risks and protective gene variants.

"Providing raw DNA sequence data to a wide range of researchers proves a powerful crowd-sourced way to find genomic changes that put us at increased risk for this devastating disease," said the NIH's director, Dr. Francis Collins.

Monday's announcement signals the agency's first data release, which includes data from 410 individuals in 89 families with a history of Alzheimer's disease. Researchers deposited completed whole genome sequencing (WGS) data on 61 families as well as WGS data on parts of the remaining 28 families, the rest of which is expected to be completed soon. WGS is used to determine the complete DNA sequence--the order of all 3 billion letters--of an individual's genome. This process is considered a crucial foundation to finding new clues that may point to the underlying cause of Alzheimer's and how the disease develops.

The project will eventually produce whole genome sequences of 582 subjects from 111 families. In addition to the WGS studies, ADSP will conduct whole exome sequencing on another 11,000 individuals, including 6,000 individuals with Alzheimer's and 5,000 controls. Whole exome sequencing is used to determine the order of genomic letters for the approximately 21,000 genes in the human genome.

 

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