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Teri A Manolio1, Douglas M Fowler2, Lea M Starita2

  • 1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Cell
|March 25, 2017
PubMed
概括

基因组测序有助于基因疾病的诊断. 科学家和临床基因组学家之间的合作对于将遗传变异与疾病原因联系起来至关重要,需要优先考虑基因研究和数据共享.

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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