Caleshu Colleen, Ashley Euan A
Stanford Center for Inherited Cardiovascular Disease, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Department of Pediatrics, Division of Medical Genetics, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Genome Med. 2016 Jun 20;8(1):70. doi: 10.1186/s13073-016-0325-9.
Advances in sequencing technology have taught us much about the human genome, including how difficult it is to interpret rare variation. Improvements in genetic test interpretation are likely to come through data sharing, international collaborative efforts to develop disease-gene specific guidelines, and computational analyses using big data.
测序技术的进步让我们对人类基因组有了很多了解，包括解读罕见变异有多困难。基因检测解读的改进可能要通过数据共享、制定疾病基因特异性指南的国际合作努力以及使用大数据的计算分析来实现。
