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Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment
BACKGROUND: Several thousand human genome epidemiology association studies are published every year investigating the relationship between common genetic variants and diverse phenotypes. Transparent reporting of study methods and results allows readers to better assess the validity of study findings...
Autores principales: | , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2413261/ https://www.ncbi.nlm.nih.gov/pubmed/18492284 http://dx.doi.org/10.1186/1471-2288-8-31 |
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author | Yesupriya, Ajay Evangelou, Evangelos Kavvoura, Fotini K Patsopoulos, Nikolaos A Clyne, Melinda Walsh, Matthew C Lin, Bruce K Yu, Wei Gwinn, Marta Ioannidis, John PA Khoury, Muin J |
author_facet | Yesupriya, Ajay Evangelou, Evangelos Kavvoura, Fotini K Patsopoulos, Nikolaos A Clyne, Melinda Walsh, Matthew C Lin, Bruce K Yu, Wei Gwinn, Marta Ioannidis, John PA Khoury, Muin J |
author_sort | Yesupriya, Ajay |
collection | PubMed |
description | BACKGROUND: Several thousand human genome epidemiology association studies are published every year investigating the relationship between common genetic variants and diverse phenotypes. Transparent reporting of study methods and results allows readers to better assess the validity of study findings. Here, we document reporting practices of human genome epidemiology studies. METHODS: Articles were randomly selected from a continuously updated database of human genome epidemiology association studies to be representative of genetic epidemiology literature. The main analysis evaluated 315 articles published in 2001–2003. For a comparative update, we evaluated 28 more recent articles published in 2006, focusing on issues that were poorly reported in 2001–2003. RESULTS: During both time periods, most studies comprised relatively small study populations and examined one or more genetic variants within a single gene. Articles were inconsistent in reporting the data needed to assess selection bias and the methods used to minimize misclassification (of the genotype, outcome, and environmental exposure) or to identify population stratification. Statistical power, the use of unrelated study participants, and the use of replicate samples were reported more often in articles published during 2006 when compared with the earlier sample. CONCLUSION: We conclude that many items needed to assess error and bias in human genome epidemiology association studies are not consistently reported. Although some improvements were seen over time, reporting guidelines and online supplemental material may help enhance the transparency of this literature. |
format | Text |
id | pubmed-2413261 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-24132612008-06-06 Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment Yesupriya, Ajay Evangelou, Evangelos Kavvoura, Fotini K Patsopoulos, Nikolaos A Clyne, Melinda Walsh, Matthew C Lin, Bruce K Yu, Wei Gwinn, Marta Ioannidis, John PA Khoury, Muin J BMC Med Res Methodol Research Article BACKGROUND: Several thousand human genome epidemiology association studies are published every year investigating the relationship between common genetic variants and diverse phenotypes. Transparent reporting of study methods and results allows readers to better assess the validity of study findings. Here, we document reporting practices of human genome epidemiology studies. METHODS: Articles were randomly selected from a continuously updated database of human genome epidemiology association studies to be representative of genetic epidemiology literature. The main analysis evaluated 315 articles published in 2001–2003. For a comparative update, we evaluated 28 more recent articles published in 2006, focusing on issues that were poorly reported in 2001–2003. RESULTS: During both time periods, most studies comprised relatively small study populations and examined one or more genetic variants within a single gene. Articles were inconsistent in reporting the data needed to assess selection bias and the methods used to minimize misclassification (of the genotype, outcome, and environmental exposure) or to identify population stratification. Statistical power, the use of unrelated study participants, and the use of replicate samples were reported more often in articles published during 2006 when compared with the earlier sample. CONCLUSION: We conclude that many items needed to assess error and bias in human genome epidemiology association studies are not consistently reported. Although some improvements were seen over time, reporting guidelines and online supplemental material may help enhance the transparency of this literature. BioMed Central 2008-05-20 /pmc/articles/PMC2413261/ /pubmed/18492284 http://dx.doi.org/10.1186/1471-2288-8-31 Text en Copyright © 2008 Yesupriya et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Yesupriya, Ajay Evangelou, Evangelos Kavvoura, Fotini K Patsopoulos, Nikolaos A Clyne, Melinda Walsh, Matthew C Lin, Bruce K Yu, Wei Gwinn, Marta Ioannidis, John PA Khoury, Muin J Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment |
title | Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment |
title_full | Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment |
title_fullStr | Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment |
title_full_unstemmed | Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment |
title_short | Reporting of Human Genome Epidemiology (HuGE) association studies: An empirical assessment |
title_sort | reporting of human genome epidemiology (huge) association studies: an empirical assessment |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2413261/ https://www.ncbi.nlm.nih.gov/pubmed/18492284 http://dx.doi.org/10.1186/1471-2288-8-31 |
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