Bienstock Rachelle J
RJB Computational Modeling LLC, Chapel Hill, North Carolina 27514, United States.
ACS Pharmacol Transl Sci. 2019 Aug 22;2(6):491-496. doi: 10.1021/acsptsci.9b00034. eCollection 2019 Dec 13.
Because of the decreased cost and increased ease of whole genome analysis, the diagnosis of rare, orphan diseases has entered a new era. This new technological advance, combined with the worldwide web connections, now permits sharing, searching, and linking genotype, phenotype, and other information to facilitate diagnosis. Databases currently accessible and searchable by researchers, clinicians, and patients will be presented and discussed.
由于全基因组分析成本降低且操作更加简便，罕见病、孤儿病的诊断进入了一个新时代。这项新的技术进步，再加上全球网络连接，现在使得基因型、表型及其他信息的共享、搜索和关联成为可能，从而有助于诊断。本文将展示并讨论研究人员、临床医生和患者目前可以访问和搜索的数据库。
