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首页> 外文期刊>Briefings in functional genomics & proteomics >Sequencing Genomes:From Individuals to Populations
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Sequencing Genomes:From Individuals to Populations

机译:基因组测序:从个人到人群

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The whole genome sequences of Jim Watson and Craig Venter are early examples of personalized genomics, whichpromises to change how we approach healthcare in the future. Before personal sequencing can have practical med-ical benefits, however, and before it should be advocated for implementation at the population-scale, there needsto be a better understanding of which genetic variants influence which traits and how their effects are modifiedby epigenetic factors. Nonetheless, for forging links between DNA sequence and phenotype, efforts to sequencethe genomes of individuals need to continue; this includes sequencing sub-populations for association studies whichanalyse the difference in sequence between disease affected and unaffected individuals. Such studies can only beapplied on a large enough scale to be effective if the massive strides in sequencing technology that have recentlyoccurred also continue.
机译:吉姆·沃森(Jim Watson)和克雷格·文特(Craig Venter)的全基因组序列是个性化基因组学的早期实例,有望改变我们未来的医疗保健方式。然而,在个人测序可以产生实际的医学益处之前,并且在应该提倡将其应用于人群规模之前,需要更好地了解哪些遗传变异会影响哪些特征以及如何通过表观遗传因素对其影响进行修饰。但是,为了在DNA序列和表型之间建立联系,需要继续努力对个体基因组进行测序。这包括用于关联研究的测序亚群,这些亚群分析了患病个体和未患病个体之间的序列差异。如果最近发生的测序技术的巨大进步仍在继续,那么这些研究只能在足够大的规模上有效地应用。

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