Molecular Diagnostic Centre, Department of Oncology, University of Oxford, Oxford, UK.
Oxford University Hospitals, Oxford, UK.
Br J Haematol. 2018 Aug;182(3):412-417. doi: 10.1111/bjh.15406. Epub 2018 May 29.
The 100 000 Genome Project aims to develop a diagnostics platform by introducing whole genome sequencing (WGS) into clinical practice. Samples from patients with chronic lymphocytic leukaemia were subjected to WGS. WGS detection of single nucleotide variants and insertion/deletions were validated by targeted next generation sequencing showing high concordance (96·3%), also for detection of sub-clonal variants and low-frequency TP53 variants. Copy number alteration detection was verified by fluorescent in situ hybridisation and genome-wide single nucleotide polymorphism array (concordances of 86·7% and 92·9%, respectively), confirming adequate sensitivity by WGS. Our results confirm that WGS can provide comprehensive genomic characterisation for clinical trials, drug discovery and, ultimately, precision medicine.
十万基因组计划旨在通过将全基因组测序（WGS）引入临床实践来开发诊断平台。对慢性淋巴细胞白血病患者的样本进行了 WGS 分析。通过靶向下一代测序对单核苷酸变异和插入/缺失进行 WGS 检测，显示出高度一致性（96.3%），也可检测亚克隆变异和低频 TP53 变异。通过荧光原位杂交和全基因组单核苷酸多态性阵列检测拷贝数改变（分别为 86.7%和 92.9%的一致性），WGS 证实了足够的灵敏度。我们的结果证实，WGS 可为临床试验、药物发现以及最终的精准医疗提供全面的基因组特征。
