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EQUINE GENOMICS GENETICS: THE IMPACT ON DISEASE DIAGNOSIS, RESEARCH TREATMENT

机译:马基因组学与遗传学:对疾病诊断,研究与治疗的影响

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Within the last 15 to 20 years there has been an explosion of information on medical genetics that has greatly influenced the practice of human medicine. Most of these advances have been the result of the human genome project that has sequenced the entire human genome and located the estimated 20,000 to 25,000 human genes on their respective chromosomes. The sequencing of the human genome has not only allowed for the discovery of numerous disease mutations, it has resulted in the development of "genomic medicine." Genomics is a relatively recent term that refers to not just the study of single genes and their effects, but to the functions and interactions of all the genes in the genome. Genetics in human medicine is moving away from simply the diagnosis and treatment of single gene diseases and towards understanding how a patient's underlying genetic susceptibilities effect health, disease risk and treatment choices.
机译:在过去的15到20年内,有关于医学遗传学的信息爆发,这极大地影响了人类医学的实践。这些进展中的大部分是人类基因组项目的结果,其对整个人类基因组排序并位于其各自的染色体上的估计20,000至25,000个人基因。人类基因组的测序不仅允许发现许多疾病突变,导致“基因组”的发展。基因组学是一个相对近期的术语,不仅是对单一基因的研究及其影响,而且是基因组中所有基因的功能和相互作用。人体医学的遗传正在远离单一基因疾病的诊断和治疗以及了解患者的潜在遗传敏感性如何影响健康,疾病风险和治疗选择。

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