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，并且可以轻松地用于诊断与疾病相关的遗传特征。但是，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错误，NGS数据的解释仍然具有挑战性。这些错误可以通过使用参考标准来理解和缓解，这些参考标准是特征明确的遗传材料或合成的插入控制，有助于校准NGS测量和评估诊断性能。知情地使用参考标准和相关的统计原理，可以确保对NGS数据进行严格的分析，这对于其未来的临床应用至关重要。