Abstract：
Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of setting up genetic testing workflows based on a completely new technology. The learning curve we went through as a laboratory was accompanied by growing pains while we gained new knowledge and expertise. Here we discuss some important mistakes that have been made in our laboratory through 10 years of clinical exome sequencing but that have given us important new insights on how to adapt our working methods. We provide these examples and the lessons that we learned to help other laboratories avoid to make the same mistakes.
摘要：
大规模平行测序技术已成为遗传诊断和研究的主要技术。许多基因实验室都在努力应对基于全新技术建立基因检测工作流程的挑战。我们作为实验室经历的学习曲线伴随着成长的痛苦，同时我们获得了新的知识和专业知识。在这里，我们讨论了通过10年的临床外显子组测序在我们的实验室中犯下的一些重要错误，但这些错误为我们提供了关于如何适应我们的工作方法的重要新见解。我们提供这些例子和我们学到的教训，以帮助其他实验室避免犯同样的错误。
