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词条 PhenX Toolkit
释义

  1. See also

  2. References

  3. External links

{{Notability|date=January 2019}}{{Infobox website
| name = The PhenX Toolkit
| logo =
| logocaption = PhenX: consensus measures for Phenotypes and eXposures
| screenshot =
| collapsible = yes
| collapsetext = Screenshot
| caption = Screenshot of the website as of August 2012.
| url = {{URL|https://www.phenxtoolkit.org/}}
| slogan =
| commercial = no
| type = Content Site
| registration = Optional
| language = English
| num_users = 2700+ Registered, 1M+ visits
| content_license = Public Domain
| owner = NHGRI
| author = RTI International
| launch_date = {{Start date|2009|02|06|df=yes/no}}
| alexa =
| revenue =
| current_status = Active
| footnotes =
}}

The PhenX Toolkit is a web-based catalog of high-priority measures related to complex diseases, phenotypic traits and environmental exposures. These measures were selected by working groups of experts using a consensus process.[1] Use of PhenX measures facilitates combining data from a variety of studies, and makes it easy for investigators to expand a study design beyond the primary research focus.[2][3]

The Toolkit is funded by the National Institute of Health's National Human Genome Research Institute (NHGRI) with co-funding by the Office of Behavioral and Social Sciences Research (OBSSR) and the National Institute on Drug Abuse (NIDA).[4] Supplemental funding is provided by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute on Minority Health and Health Disparities (NIMHD).[5] The PhenX Toolkit is available to the scientific community at no cost.

For genome-wide association studies (GWAS) and other studies involving human subjects, the use of standard measures can facilitate cross-study analyses.[6][7]

Such analyses compare independent findings to validate results or combine studies to increase sample size and statistical power. This increased power makes it possible to identify more subtle and complex associations such as gene-gene and gene-environment interactions.[8][9][10][11]

The Toolkit provides assessments for 24 research domains. In addition to measures, PhenX also defines protocols. There may be multiple protocols defined for a measure. For example, for smoking cessation, there is an adult protocol and adolescent protocol. PhenX also provides a datatype (e.g., integer, string, date, enumerated, or encoded values) for each PhenX variable.

See also

  • Patient-Reported Outcomes Measurement Information System
  • Health informatics
  • Redcap (Research Electronic Data Capture)
  • LOINC

References

1. ^{{cite techreport |last1=Maiese |first1=Deborah R. |last2=Hendershot |first2=Tabitha P. |last3=Strader |first3=Lisa C. |last4=Wagener |first4=Diane K. |last5=Hammond |first5=Jane A. |last6=Huggins |first6=Wayne |last7=Kwok |first7=Richard K. |last8=Hancock |first8=Dana B. |last9=Whitehead |first9=Nedra S. |last10=Nettles |first10=Destiney S. |last11=Pratt |first11=Joseph G. |last12=Scott |first12=Marcia S. |last13=Conway |first13=Kevin P. |last14=Junkins |first14=Heather A. |last15=Ramos |first15=Erin M. |last16=Hamilton |first16=Carol M. |display-authors=3 |name-list-format=vanc |date=2013 |title=PhenX—Establishing a consensus process to select common measures for collaborative research |number=MR-0027-1310 |institution=RTI Press |location=Research Triangle Park, NC |doi=10.3768/rtipress.2013.mr.0027.1310 |doi-access=free |url=http://www.rti.org/publication/phenx%E2%80%94establishing-consensus-process-select-common-measures-collaborative-research }}
2. ^{{cite journal |last1=Hamilton |first1=Carol M. |last2=Strader |first2=Lisa C. |last3=Pratt |first3=Joseph G. |last4=Maiese |first4=Deborah |last5=Hendershot |first5=Tabitha |last6=Kwok |first6=Richard K. |last7=Hammond |first7=Jane A. |last8=Huggins |first8=Wayne |last9=Jackman |first9=Dean |last10=Pan |first10=Huaqin |last11=Nettles |first11=Destiney S. |last12=Beaty |first12=Terri H. |last13=Farrer |first13=Lindsay A. |last14=Kraft |first14=Peter |last15=Marazita |first15=Mary L. |last16=Ordovas |first16=Jose M. |last17=Pato |first17=Carlos N. |last18=Spitz |first18=Margaret R. |last19=Wagener |first19=Diane |last20=Williams |first20=Michelle |last21=Junkins |first21=Heather A. |last22=Harlan |first22=William R. |last23=Ramos |first23=Erin M. |last24=Haines |first24=Jonathan |display-authors=3 |name-list-format=vanc |title=The PhenX Toolkit: Get the Most From Your Measures |journal=American Journal of Epidemiology |volume=174 |issue=3 |pages=253–260 |date=1 August 2011 |pmc=3141081 |pmid=21749974 |doi=10.1093/aje/kwr193 |doi-access=free }}
3. ^{{cite journal | last1=Hendershot |first1=Tabitha |last2=Pan |first2=Huaqin |last3=Haines |first3=Jonathan |last4=Harlan |first4=William R. |last5=Junkins |first5=Heather A. |last6=Ramos |first6=Erin M. |last7=Hamilton |first7=Carol M. |display-authors=3 |name-list-format=vanc |title=Using the PhenX Toolkit to Add Standard Measures to Your Study |journal=Current Protocols in Human Genetics |volume=1 |issue=21 |date=October 2011 |pmid=21975939 |doi=10.1002/0471142905.hg0121s71 |at=Unit 1.21 |subscription=yes }}
4. ^{{cite news|title=A research toolkit of standard measures to be expanded to further support the biomedical community|url=https://www.rti.org/news/research-toolkit-standard-measures-be-expanded-further-support-biomedical-community|accessdate=9 May 2018|publisher=RTI International|date=September 28, 2017}}
5. ^{{cite journal|last1=Eckman|first1=JR|display-authors=etal|title=Standard measures for sickle cell disease research: the PhenX Toolkit sickle cell disease collections|journal=Blood Advances|date=December 26, 2017|volume=1|issue=27|pages=2703–2711|doi=10.1182/bloodadvances.2017010702|pmid=29296922|pmc=5745137|url=http://www.bloodadvances.org/content/bloodoa/1/27/2703.full.pdf?sso-checked=true|accessdate=9 May 2018|doi-broken-date=2019-01-07}}
6. ^{{cite journal| last1=Pan |first1=Huaqin |last2=Tryka |first2=Kimberly A. |last3=Vreeman |first3=Daniel J. |last4=Huggins |first4=Wayne |last5=Phillips |first5=Michael J. |last6=Mehta |first6=Jayashri P. |last7=Phillips |first7=Jacqueline H. |last8=McDonald |first8=Clement J. |last9=Junkins |first9=Heather A. |first10=Ramos |last10=Erin M. |last11=Hamilton |first11=Carol M. |display-authors=3 |name-list-format=vanc| title = Using PhenX Measures to Identify Opportunities for Cross-Study Analysis| journal = Human Mutation| volume = 33| issue = 5| pages = 849–857| date = May 2012| doi = 10.1002/humu.22074| doi-access = free| pmid = 22415805| pmc=3780790}}
7. ^{{cite journal|last=Manolio |first=Teri A. |name-list-format=vanc| title = Collaborative Genome-wide Association Studies of Diverse Diseases: Programs of the NHGRI's Office of Population Genomics| journal = Pharmacogenomics| volume = 10| issue = 3| pages = 235–241| date = February 2009| pmc = 2714942| pmid = 19207024| doi = 10.2217/14622416.10.2.235}}
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9. ^{{cite journal |last1=Barrett |first1=Jeffrey C. |last2=Clayton |first2=David G. |last3=Concannon |first3=Patrick |last4=Akolkar |first4=Beena |last5=Cooper |first5=Jason D. |last6=Erlich |first6=Henry A. |last7=Julier |first7=Cecile |last8=Morahan |first8=Grant |last9=Nerup |first9=Jorn |last10=Nierras |first10=Concepcion |last11=Plagnol |first11=Vincent |last12=Pociot |first12=Flemming |last13=Schuilenburg |first13=Helen |last14=Smyth |first14=Deborah J. |last15=Stevens |first15=Helen |last16=Todd |first16=John A. |last17=Walker |first17=Neil M. |last18=Rich |first18=Stephen S. |author19=Type 1 Diabetes Genetics Consortium |display-authors=3 |name-list-format=vanc| title = Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes| journal = Nature Genetics| volume = 41| issue = 6| pages = 703–707| date = June 2009| pmc = 2889014| pmid = 19430480| doi = 10.1038/ng.381 |url=http://www.zora.uzh.ch/30808/2/30808_V.pdf }}
10. ^{{cite journal |last1=Cooper |first1=Jason D. |last2=Smyth |first2=Deborah J. |last3=Smiles |first3=Adam M. |last4=Plagnol |first4=Vincent |last5=Walker |first5=Neil M. |last6=Allen |first6=James E. |last7=Downes |first7=Kate |last8=Barrett |first8=Jeffrey C. |last9=Healy |first9=Barry C. |last10=Mychaleckyj |first10=Josyf C. |last11=Warram |first11=James H. |last12=Todd |first12=John A. |display-authors=3 |name-list-format=vanc| title = Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci| journal = Nature Genetics| volume = 40| issue = 12| pages = 1399–1401| date = December 2008| pmc = 2635556| pmid = 18978792| doi = 10.1038/ng.249}}
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External links

  • [https://www.ncbi.nlm.nih.gov/gap] dbGaP
  • [https://www.nlm.nih.gov/cde/] NIH Common Data Elements (CDE) Resource Portal

2 : Health informatics|Medical websites

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