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The challenges of developing a 'medical-grade' genome

机译：开发“医学级”基因组的挑战

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摘要

In recent years, significant technological advancements have been achieved in the field of genomics. This has resulted in unprecedented possibilities to investigate the contribution of the genome to human health and disease, and fueled expectations of a new era of personalized medicine. However, there are many controversies, and the clinical use of the genome remains limited. While some authors consider the current knowledge of the genome not applicable to clinical practice, others advocate the opposite [1,2]. The controversies are wide ranging, varying from the required level of evidence of improved treatment outcome to the requirement of cost-effectiveness studies. However, even more basic questions such as the quality of the genotyping of the studied genome remain unanswered.
机译：近年来，在基因组学领域已经取得了重大的技术进步。这为研究基因组对人类健康和疾病的贡献提供了前所未有的可能性，并激发了对个性化医学新时代的期望。但是，存在许多争议，并且基因组的临床使用仍然受到限制。虽然有些作者认为当前的基因组知识不适用于临床实践，但另一些人则主张相反的观点[1,2]。争议范围广泛，从所需的改善治疗效果的证据水平到成本效益研究的要求不等。然而，甚至更基本的问题，如所研究基因组的基因分型质量，仍未得到解答。

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