期刊
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
卷 46, 期 2, 页码 519-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ecl.2017.01.015
关键词
Disorders of sex development; Genotype; Phenotype; Genomic sequencing
资金
- NICHD NIH HHS [R01 HD068138] Funding Source: Medline
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Network (DSD-TRN) guidelines for standardization of reporting and practice is the current lack of integration of the standardized clinical forms into the various electronic medical records at different sites. Time allocated to research is also limited. In spite of these hurdles, genetic information for half the enrolled patients is already available in the DSD-TRN registry, and early results demonstrate the value of such an infrastructure.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据