PhenX measures for phenotyping rare genetic conditions.
PhenX measures for phenotyping rare genetic conditions.
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DOI：
10.1038/gim.2016.199
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发表时间：
2017-07
期刊：
影响因子：
--
通讯作者：
Hamilton CM
中科院分区：
文献类型：
--
作者：
Phillips M;Grant T;Giampietro P;Bodurtha J;Valdez R;Maiese DR;Hendershot T;Terry SF;Hamilton CM
PhenX工具包是一个完善的表型和暴露措施的在线资源，现在有16个新的措施建议用于评估罕见的遗传条件。这些措施及其议定书是由一个领域专家工作组根据科学界的意见选定的。这些措施涵盖了从出生到成年的生命阶段，包括临床量表、罕见遗传病的表征、生物测定和问卷调查。大多数广泛适用于罕见的遗传疾病，例如，家族史，生长图表，骨龄，和身体比例。一些协议，例如，汗液氯化物测试，针对特定条件。罕见的遗传条件措施补充了PhenX工具包中现有的措施，包括人体测量学，人口统计学，心理健康和生殖史。他们致力于与常见和复杂疾病有关的研究。PhenX的措施是公开的，并建议帮助标准化评估在一系列的生物医学研究设计。为了便于将测量纳入人类受试者的研究，工具包提供了数据收集工具和兼容的数据字典。在临床、转化和流行病学研究中广泛使用标准的PhenX措施将使交叉研究比较更加统一，并增加统计能力，从而提高科学发现的潜力。
The PhenX Toolkit, an online resource of well-established measures of phenotypes and exposures, now has 16 new measures recommended for assessing rare genetic conditions. These measures and their protocols were selected by a working group of domain experts with input from the scientific community. The measures cover life stages from birth through adulthood, and include clinical scales, characterization of rare genetic conditions, bioassays, and questionnaires. Most are broadly applicable to rare genetic conditions, e.g., family history, growth charts, bone age, and body proportions. Some protocols, e.g., sweat chloride test, target specific conditions. The rare genetic condition measures complement the existing measures in the PhenX Toolkit that cover anthropometrics, demographics, mental health, and reproductive history. They are directed at research pertaining to common and complex diseases. PhenX measures are publicly available and are recommended to help standardize assessments across a range of biomedical study designs. To facilitate incorporation of measures into human subjects’ research, the Toolkit offers data collection worksheets, and compatible data dictionaries. Widespread use of standard, PhenX measures in clinical, translational and epidemiological research will enable more uniform cross-study comparisons and increase statistical power with the potential for enhancing scientific discovery.
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影响因子：
3.9
作者：
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通讯作者：
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DOI：
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发表时间：
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影响因子：
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作者：
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