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30-year journey from the start of the Human Genome Project to clinical application of genomics in psychiatry: are we there yet?
The Lancet Psychiatry ( IF 64.3 ) Pub Date : 2020-01-01 , DOI: 10.1016/s2215-0366(19)30477-8
Nina Roth Mota 1 , Barbara Franke 1
Affiliation  

2020 marks the 30th anniversary of the official start of the (HGP), a 13-year effort coordinated by the US Department of Energy and the US National Institutes of Health. The major goals of the HGP were to identify all of the approximately 20 000–25 000 genes in human DNA and make them accessible for further biological studies, and to determine the complete sequence of nucleotides in the human genome. The HGP certainly counts among the most important scientific efforts to bring us closer to personalised medicine. Identification of rare, penetrant genetic variants causing monogenic diseases boomed in the years following completion of the HGP, paving the way for the systematic screening of disease genes in diagnostic services. In psychiatry, where the role of highly penetrant genetic variants is limited, only a small group of patients could benefit directly from these advances in diagnostics, most importantly those with severe intellectual disability and a subgroup of those with sporadic forms of autism spectrum disorder.

中文翻译:

从人类基因组计划的开始到基因组学在精神病学临床应用中的30年历程:我们到了吗?

2020年是(HGP)正式启动30周年,这是由美国能源部和美国国立卫生研究院协调的13年努力。HGP的主要目标是鉴定人类DNA中所有大约20000至25 000个基因,并使它们可用于进一步的生物学研究,并确定人类基因组中核苷酸的完整序列。HGP当然是使我们更接近个性化医学的最重要的科学努力之一。HGP完成后的几年中,鉴定出导致单基因疾病的稀有渗透性遗传变异,从而为在诊断服务中系统筛选疾病基因铺平了道路。在高度渗透性遗传变异的作用有限的精神病学中,
更新日期:2019-12-19
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