Literature DB >> 20154612

PhenX: a toolkit for interdisciplinary genetics research.

Patrick J Stover1, William R Harlan, Jane A Hammond, Tabitha Hendershot, Carol M Hamilton.   

Abstract

PURPOSE OF REVIEW: To highlight standard PhenX (consensus measures for Phenotypes and eXposures) measures for nutrition, dietary supplements, and cardiovascular disease research and to demonstrate how these and other PhenX measures can be used to further interdisciplinary genetics research. RECENT
FINDINGS: PhenX addresses the need for standard measures in large-scale genomic research studies by providing investigators with high-priority, well established, low-burden measurement protocols in a web-based toolkit (https://www.phenxtoolkit.org). Cardiovascular and Nutrition and Dietary Supplements are just 2 of 21 research domains and accompanying measures included in the PhenX Toolkit.
SUMMARY: Genome-wide association studies (GWAS) provide promise for the identification of genomic markers associated with different disease phenotypes, but require replication to validate results. Cross-study comparisons typically increase statistical power and are required to understand the roles of comorbid conditions and environmental factors in the progression of disease. However, the lack of comparable phenotypic, environmental, and risk factor data forces investigators to infer and to compare metadata rather than directly combining data from different studies. PhenX measures provide a common currency for collecting data, thereby greatly facilitating cross-study analysis and increasing statistical power for identification of associations between genotypes, phenotypes, and exposures.

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Mesh:

Year:  2010        PMID: 20154612      PMCID: PMC8038872          DOI: 10.1097/MOL.0b013e3283377395

Source DB:  PubMed          Journal:  Curr Opin Lipidol        ISSN: 0957-9672            Impact factor:   4.776


  19 in total

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2.  Breakthrough of the year. Human genetic variation.

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Journal:  J Nutr       Date:  2008-01       Impact factor: 4.798

5.  Macronutrient-specific effect of FTO rs9939609 in response to a 10-week randomized hypo-energetic diet among obese Europeans.

Authors:  K Grau; T Hansen; C Holst; A Astrup; W H M Saris; P Arner; S Rössner; I Macdonald; J Polak; J-M Oppert; D Langin; J A Martinez; O Pedersen; T I A Sørensen
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Review 6.  The LDL receptor defect in familial hypercholesterolemia. Implications for pathogenesis and therapy.

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Review 8.  Genetic and epigenetic contributions to human nutrition and health: managing genome-diet interactions.

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9.  Genomewide association analysis of coronary artery disease.

Authors:  Nilesh J Samani; Jeanette Erdmann; Alistair S Hall; Christian Hengstenberg; Massimo Mangino; Bjoern Mayer; Richard J Dixon; Thomas Meitinger; Peter Braund; H-Erich Wichmann; Jennifer H Barrett; Inke R König; Suzanne E Stevens; Silke Szymczak; David-Alexandre Tregouet; Mark M Iles; Friedrich Pahlke; Helen Pollard; Wolfgang Lieb; Francois Cambien; Marcus Fischer; Willem Ouwehand; Stefan Blankenberg; Anthony J Balmforth; Andrea Baessler; Stephen G Ball; Tim M Strom; Ingrid Braenne; Christian Gieger; Panos Deloukas; Martin D Tobin; Andreas Ziegler; John R Thompson; Heribert Schunkert
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Journal:  PLoS Genet       Date:  2009-06-05       Impact factor: 5.917

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  41 in total

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Journal:  Am J Clin Nutr       Date:  2012-02-01       Impact factor: 7.045

2.  Common Measures for National Institute of Mental Health Funded Research.

Authors:  Deanna M Barch; Ian H Gotlib; Robert M Bilder; Daniel S Pine; Jordan W Smoller; C Hendricks Brown; Wayne Huggins; Carol Hamilton; Adam Haim; Gregory K Farber
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3.  Data standards for clinical research data collection forms: current status and challenges.

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4.  Charting a course for genomic medicine from base pairs to bedside.

Authors:  Eric D Green; Mark S Guyer
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5.  Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience.

Authors:  Jyotishman Pathak; Janey Wang; Sudha Kashyap; Melissa Basford; Rongling Li; Daniel R Masys; Christopher G Chute
Journal:  J Am Med Inform Assoc       Date:  2011-05-19       Impact factor: 4.497

6.  Analyzing Real-World Use of Research Common Data Elements.

Authors:  Vojtech Huser; Liz Amos
Journal:  AMIA Annu Symp Proc       Date:  2018-12-05

7.  Heterogeneous network embedding for identifying symptom candidate genes.

Authors:  Kuo Yang; Ning Wang; Guangming Liu; Ruyu Wang; Jian Yu; Runshun Zhang; Jianxin Chen; Xuezhong Zhou
Journal:  J Am Med Inform Assoc       Date:  2018-11-01       Impact factor: 4.497

8.  Harmonization and semantic annotation of data dictionaries from the Pharmacogenomics Research Network: a case study.

Authors:  Qian Zhu; Robert R Freimuth; Zonghui Lian; Scott Bauer; Jyotishman Pathak; Cui Tao; Matthew J Durski; Christopher G Chute
Journal:  J Biomed Inform       Date:  2012-11-29       Impact factor: 6.317

9.  Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using Biofilter, and gene-environment interactions using the PhenX Toolkit.

Authors:  Sarah A Pendergrass; Shefali S Verma; Emily R Holzinger; Carrie B Moore; John Wallace; Scott M Dudek; Wayne Huggins; Terrie Kitchner; Carol Waudby; Richard Berg; Catherine A McCarty; Marylyn D Ritchie
Journal:  Pac Symp Biocomput       Date:  2013

10.  Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies.

Authors:  Isabel Fortier; Paul R Burton; Paula J Robson; Vincent Ferretti; Julian Little; Francois L'Heureux; Mylène Deschênes; Bartha M Knoppers; Dany Doiron; Joost C Keers; Pamela Linksted; Jennifer R Harris; Geneviève Lachance; Catherine Boileau; Nancy L Pedersen; Carol M Hamilton; Kristian Hveem; Marilyn J Borugian; Richard P Gallagher; John McLaughlin; Louise Parker; John D Potter; John Gallacher; Rudolf Kaaks; Bette Liu; Tim Sprosen; Anne Vilain; Susan A Atkinson; Andrea Rengifo; Robin Morton; Andres Metspalu; H Erich Wichmann; Mark Tremblay; Rex L Chisholm; Andrés Garcia-Montero; Hans Hillege; Jan-Eric Litton; Lyle J Palmer; Markus Perola; Bruce H R Wolffenbuttel; Leena Peltonen; Thomas J Hudson
Journal:  Int J Epidemiol       Date:  2010-09-02       Impact factor: 7.196

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