Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection.
Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection.
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DOI：
10.1038/s41436-021-01183-0
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发表时间：
2021-09
期刊：
影响因子：
--
通讯作者：
Ramos EM
中科院分区：
文献类型：
--
作者：
Chung WK;Brothers K;Bradbury A;Chanprasert S;Orlando L;Torkamani A;Zierhut H;Ritchie MD;Phillips M;Schoden J;Maiese D;Hendershot T;Hamilton CM;Ramos EM
该PhenX工具包（www.phenxtoolkit.org），推荐的测量协议的在线目录，促进与人类参与者的研究交叉研究分析。PhenX指导委员会建议基因组医学实施作为一个新的研究领域，具有以下范围：基因组知识和教育（患者和供应商）;实施科学;管理和治疗的变化;结果的回报;患者的结果;和伦理，法律的，和与基因组研究相关的社会问题（ELSI）。一个由七名成员组成的专家工作组于2019年10月召开会议，为新的基因组医学实施领域确定完善的测量协议，并使用已建立的PhenX共识流程来选择纳入PhenX工具包的测量协议。工作组推荐了15个测量协议，供PhenX工具包使用，优先考虑那些有经验证据支持有效性的协议。由美国国立卫生研究院，特别是国家人类基因组研究所资助的联盟，证明了在确定该研究领域中具有既定效用的协议方面的关键作用，并确定了通过严格的过程为缺乏正式验证协议的范围元素开发的协议。使用这些于2020年9月发布的协议，可以促进基因组医学实施研究的标准数据收集。
The PhenX Toolkit (www.phenxtoolkit.org), an online catalog of recommended measurement protocols, facilitates cross-study analyses for research with human participants. The PhenX Steering Committee recommended genomic medicine implementation as a new research domain, with the following scope: genomic knowledge and education (both patients and providers); implementation science; changes in management and treatment; return of results; patient outcomes; and ethical, legal, and social issues (ELSI) associated with genomic research. A seven-member expert Working Group convened in October 2019 to identify well-established measurement protocols for a new genomic medicine implementation domain and used the established PhenX consensus process to select measurement protocols for inclusion in the PhenX Toolkit. The Working Group recommended 15 measurement protocols for inclusion in the PhenX Toolkit, with priority given to those with empirical evidence supporting validity. Consortia funded by the National Institutes of Health, and particularly the National Human Genome Research Institute, proved critical in identifying protocols with established utility in this research domain, and identified protocols that were developed through a rigorous process for scope elements that lacked formally validated protocols. Use of these protocols, which were released in September 2020, can facilitate standard data collection for genomic medicine implementation research.
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影响因子：
64.8
作者：
Green ED;Gunter C;Biesecker LG;Di Francesco V;Easter CL;Feingold EA;Felsenfeld AL;Kaufman DJ;Ostrander EA;Pavan WJ;Phillippy AM;Wise AL;Dayal JG;Kish BJ;Mandich A;Wellington CR;Wetterstrand KA;Bates SA;Leja D;Vasquez S;Gahl WA;Graham BJ;Kastner DL;Liu P;Rodriguez LL;Solomon BD;Bonham VL;Brody LC;Hutter CM;Manolio TA
通讯作者：
Manolio TA
影响因子：
--
作者：
Langer MM;Roche MI;Brewer NT;Berg JS;Khan CM;Leos C;Moore E;Brown M;Rini C
通讯作者：
Rini C
影响因子：
3.5
作者：
Underhill-Blazey, Meghan;Stopfer, Jill;Gundersen, Daniel A.
通讯作者：
Gundersen, Daniel A.
影响因子：
3.1
作者：
Daud, Aizati N. A.;Bergsma, Eefke L.;Wilffert, Bob
通讯作者：
Wilffert, Bob
影响因子：
3.5
作者：
McAllister, M.;Wood, A. M.;Todd, C.
通讯作者：
Todd, C.