国家心肺血液研究所资助Broad研究所4000万美元进行大规模的全基因组测序计划

  今日，Broad研究所表示，美国国家心肺血液研究所(NHLBI)将资助他们4000万美元用于对2万名个体进行大规模的全基因组测序研究。
  这项资助项目是NHLBI的Trans-Omic精准化医学研究计划（TOPMed）中的一部分，同时也是研究者最开始的利用全基因组测序来进行复杂疾病发现的第一个阶段，相关研究发现或为科学家们提供一种资源来帮助调查影响疾病风险的因子，帮助鉴别疾病亚型，同时开发出多种靶向性个体化疗法。
  除了对个体进行测序之外，Broad研究所还将提供数据来支持转录组学测序和代谢产物特性的研究，TOPMed研究项目支持着NHLBI的精准化医学研究项目，同时还连接着全基因组测序及其它分子层面上的数据。
  Broad研究所基因组平台的高级总监Stacey Gabriel表示，公司目前一切都满足TOPMed研究项目的挑战，因为公司可以对来自弗兰明汉心脏研究(framingham heart study)的数千名个体进行测序研究，同时还能够对TOPMed第一阶段心房颤动的患者也能够进行测序分析。当前公司可以促进这些大的计划直接帮助进行疾病遗传学的研究。
  此外，Broad研究所还表示，他们将不断扩张其测序的能力来满足日益增长的需求，而TOPMed计划同其它初始计划一样，在明年也需要产生3.5万个基因组，这相比过去12个月的14375个基因组要高出两倍还多。（转化医学网360zhyx.com）
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Broad Nabs $40M From NHLBI for Large-Scale Whole-Genome Sequencing Project
The Broad Institute today said that the National Heart, Lung, and Blood Institute has awarded it about $40 million to provide large-scale whole-genome sequencing to 20,000 individuals. 

The project is part of NHLBI's Trans-Omic for Precision Medicine (TOPMed) program and will be the first step toward a larger initiative to use whole-genome sequencing for discoveries in complex disease. Such discoveries, the Broad said, will serve as a resource to investigate factors that influence disease risk, identify disease subtypes, and develop more targeted and personalized treatments. 

In addition to sequencing the individuals, the Broad will provide data in support of small pilot projects in transcriptome sequencing and metabolite profiling. 

TOPMed supports the NHLBI's precision medicine initiative and couples whole-genome sequencing and other omics data with molecular, behavioral, imaging, environmental, and clinical data from studies focused on heart, lung, blood, and sleep disorders, according to NHLBI's website. 

Stacey Gabriel, senior director of the Broad Institute Genomics Platform, said that the Broad is well-suited to meet the challenges of the TOPMed program, as it has sequenced thousands of individuals from the Framingham Heart Study and patients with atrial fibrillation in the first phase of TOPMed. "Now we will be able to seamlessly scale to enable these new large projects to directly benefit studies in the genetics of disease," she said. 

The Broad added that it has significantly expanded its sequencing capabilities in order to meet increasing demand. The TOPMed project, along with other initiatives, will require the production of about 35,000 genomes during the next year, more than doubling the 14,375 genomes that it has completed during the past 12 months.