Genomic medicine for human immune deficiency

对患者基因组进行测序是可行的，但我们需要更多地了解遗传变异是如何导致复杂疾病的。我们已经对免疫缺陷患者的基因组进行了测序，并将测试遗传变异导致特定白细胞持续变化的想法，从而在基因组信息和临床诊断之间提供桥梁。结果将包括更准确的诊断，更好地了解免疫，以及使用全基因组信息的策略。

It is feasible to sequence patient genomes but we need to know more about how genetic variants cause complex disease. We have sequenced genomes from patients with immune deficiency and will test the idea that genetic variation causes consistent changes in particular white blood cells, thus providing a bridge between genomic information and clinical diagnosis. Outcomes will include more accurate diagnosis, better understanding of immunity, and a strategy for using whole genome information.