大规模平行测序技术在诊断中的应用。
The application of massively parallel sequencing technologies in diagnostics.
作者信息
Dahl Andreas, Mertes Florian, Timmermann Bernd, Lehrach Hans
出版信息
F1000 Biol Rep. 2010 Aug 9;2:59. doi: 10.3410/B2-59.
Massively parallel sequencing (MPS) is rapidly evolving and is starting to be utilized by the clinical field as well as diagnostics. We describe major recent advances that have come about as a result of the application of MPS in the biomedical field and the first approaches in medical genetics that have made use of MPS. Without any doubt, MPS has proven to be a very powerful technique. To unravel the capabilities of MPS for patient care, the most important aspect for the acceptance of MPS within clinics and diagnostics is to guarantee that the large amount of data undergoes vitally important analyses and interpretation and is securely managed.
大规模平行测序（MPS）正在迅速发展，并开始被临床领域以及诊断领域所采用。我们描述了由于MPS在生物医学领域的应用而取得的近期主要进展，以及医学遗传学中利用MPS的首批方法。毫无疑问，MPS已被证明是一种非常强大的技术。为了揭示MPS在患者护理方面的能力，MPS在临床和诊断领域被接受的最重要方面是确保对大量数据进行至关重要的分析和解释，并进行安全管理。
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