Connolly John J, Glessner Joseph T, Almoguera Berta, Crosslin David R, Jarvik Gail P, Sleiman Patrick M, Hakonarson Hakon
The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA.
The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.
Front Genet. 2014 Mar 18;5:51. doi: 10.3389/fgene.2014.00051. eCollection 2014.
The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best leveraged to systematically mine for potentially pathogenic CNVs, and we end with a discussion of how such variants might be reported back for inclusion in electronic medical records as part of medical history.
本文的目标是回顾近期关于拷贝数变异（CNV）及其与复杂疾病和罕见疾病关联的研究。在本文的后半部分，我们将重点关注如何最好地利用大型生物样本库，如电子病历与基因组学（eMERGE）联盟，来系统地挖掘潜在的致病性CNV，最后我们将讨论如何将这些变异作为病史的一部分反馈报告并纳入电子病历中。
