Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia.
Nat Rev Genet. 2017 Aug;18(8):473-484. doi: 10.1038/nrg.2017.44. Epub 2017 Jun 19.
Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is being readily applied for the diagnosis of disease-associated genetic features. However, the interpretation of NGS data remains challenging owing to the size and complexity of the genome and the technical errors that are introduced during sample preparation, sequencing and analysis. These errors can be understood and mitigated through the use of reference standards - well-characterized genetic materials or synthetic spike-in controls that help to calibrate NGS measurements and to evaluate diagnostic performance. The informed use of reference standards, and associated statistical principles, ensures rigorous analysis of NGS data and is essential for its future clinical use.
下一代测序（NGS）提供了对基因组的广泛研究，并且正在被迅速应用于疾病相关遗传特征的诊断。然而，由于基因组的大小和复杂性以及在样品制备、测序和分析过程中引入的技术误差，NGS 数据的解释仍然具有挑战性。这些误差可以通过使用参考标准来理解和减轻——经过充分表征的遗传材料或合成的掺入对照物，有助于校准 NGS 测量并评估诊断性能。参考标准的明智使用以及相关的统计原则确保了对 NGS 数据的严格分析，这对于其未来的临床应用是必不可少的。
