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15 results on '"Little, J. (Julian)"'

1. Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project

Author

Raimondi, S. (Susana), Gandini, S. (Sara), Fargnoli, M.C. (Maria Concetta), Bagnardi, V. (Vincenzo), Maisonneuve, P. (Patrick), Specchia, C. (Claudia), Kumar, R. (Rajiv), Nagore, E. (Eduardo), Han, J., Hansson, J. (Johan), Kanetsky, P.A. (Peter A), Ghiorzo, P. (Paola), Gruis, N.A. (Nelleke), Dwyer, T. (Terry), Blizzard, L. (Leigh), Fernandez-De-Misa, R. (Ricardo), Branicki, W. (Wojciech), Debniak, T. (Tadeusz), Morling, N. (Niels), Landi, M.T. (Maria Teresa), Palmieri, D. (Dario), Ribas, G. (Gloria), Stratigos, A. (Alexander), Cornelius, L. (Lynn), Motokawa, T. (Tomonori), Anno, H. (Hirofumi), Helsing, P. (Per), Wong, T.H. (Terence), Autier, P.J.M. (Philippe), García-Borrón, J.C. (José C), Little, J. (Julian), Newton-Bishop, J. (Julia), Sera, J.P. de, Liu, F. (Fan), Kayser, M.H. (Manfred), Nijsten, T.E.C. (Tamar), Raimondi, S. (Susana), Gandini, S. (Sara), Fargnoli, M.C. (Maria Concetta), Bagnardi, V. (Vincenzo), Maisonneuve, P. (Patrick), Specchia, C. (Claudia), Kumar, R. (Rajiv), Nagore, E. (Eduardo), Han, J., Hansson, J. (Johan), Kanetsky, P.A. (Peter A), Ghiorzo, P. (Paola), Gruis, N.A. (Nelleke), Dwyer, T. (Terry), Blizzard, L. (Leigh), Fernandez-De-Misa, R. (Ricardo), Branicki, W. (Wojciech), Debniak, T. (Tadeusz), Morling, N. (Niels), Landi, M.T. (Maria Teresa), Palmieri, D. (Dario), Ribas, G. (Gloria), Stratigos, A. (Alexander), Cornelius, L. (Lynn), Motokawa, T. (Tomonori), Anno, H. (Hirofumi), Helsing, P. (Per), Wong, T.H. (Terence), Autier, P.J.M. (Philippe), García-Borrón, J.C. (José C), Little, J. (Julian), Newton-Bishop, J. (Julia), Sera, J.P. de, Liu, F. (Fan), Kayser, M.H. (Manfred), and Nijsten, T.E.C. (Tamar)

Abstract

Background: For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. Design and methods. Based on our experience with the study design of the Melanocortin-1 receptor (MC1R) gene, SKin cancer and Phenotypic characteristics (M-SKIP) project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of MC1R variants and phenotypic characteristics to skin cancer deve

Published
2012
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2. Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Bedrosian, S. (Sara), Boffetta, P. (Paolo), Dolan, S.M. (Siobhan), Dowling, N. (Nicole), Fortier, I. (Isabel), Freedman, A.N. (Andrew Nathan), Grimshaw, J. (Jeremy), Gulcher, J.R. (Jeffrey), Gwinn, M. (Marta), Hlatky, M.A. (Mark), Janes, H. (Holly), Kraft, P. (Peter), Melillo, S. (Stephanie), O'Donnell, C.J. (Christopher), Pencina, M. (Michael), Ransohoff, D.F. (David), Schully, S.D. (Sheri), Seminara, D. (Daniela), Winn, D.M. (Deborah), Wright, C.F. (Caroline), Duijn, C.M. (Cornelia) van, Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Bedrosian, S. (Sara), Boffetta, P. (Paolo), Dolan, S.M. (Siobhan), Dowling, N. (Nicole), Fortier, I. (Isabel), Freedman, A.N. (Andrew Nathan), Grimshaw, J. (Jeremy), Gulcher, J.R. (Jeffrey), Gwinn, M. (Marta), Hlatky, M.A. (Mark), Janes, H. (Holly), Kraft, P. (Peter), Melillo, S. (Stephanie), O'Donnell, C.J. (Christopher), Pencina, M. (Michael), Ransohoff, D.F. (David), Schully, S.D. (Sheri), Seminara, D. (Daniela), Winn, D.M. (Deborah), Wright, C.F. (Caroline), Duijn, C.M. (Cornelia) van, Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Published
2011

3. Strengthening the reporting of genetic risk prediction studies: the GRIPS statement.

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Abstract

The number of known genetic markers of risk is increasing but the interpretation of their clinical effect is hampered by poor reporting of prediction studies. These guidelines from the GRIPS group aim to ensure transparent reporting of prediction studies

Published
2011
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4. Strengthening the reporting of genetic risk prediction studies: The GRIPS statement

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Abstract

The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing the predictive ability is steadily increasing, but the quality and completeness of reporting varies. A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies, building on the principles established by previous reporting guidelines. These recommendations aim to enhance the transparency of study reporting, and thereby to improve the synthesis and application of information from multiple studies that might differ in design, conduct, or analysis. A detailed Explanation and Elaboration document is published on the EJHG website.

Published
2011
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5. Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Bedrosian, S. (Sara), Boffetta, P. (Paolo), Dolan, S.M. (Siobhan M.), Dowling, N. (Nicole), Fortier, I. (Isabel), Freedman, A.N. (Andrew Nathan), Grimshaw, J. (Jeremy), Gulcher, J.R. (Jeffrey), Gwinn, M. (Marta), Hlatky, M.A. (Mark), Janes, H. (Holly), Kraft, P. (Peter), Melillo, S. (Stephanie), O'Donnell, C.J. (Christopher), Pencina, M.J. (Michael), Ransohoff, D. (David), Schully, S.D. (Sheri), Seminara, D. (Daniela), Winn, D.M. (Deborah), Wright, C.F. (Caroline), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Bedrosian, S. (Sara), Boffetta, P. (Paolo), Dolan, S.M. (Siobhan M.), Dowling, N. (Nicole), Fortier, I. (Isabel), Freedman, A.N. (Andrew Nathan), Grimshaw, J. (Jeremy), Gulcher, J.R. (Jeffrey), Gwinn, M. (Marta), Hlatky, M.A. (Mark), Janes, H. (Holly), Kraft, P. (Peter), Melillo, S. (Stephanie), O'Donnell, C.J. (Christopher), Pencina, M.J. (Michael), Ransohoff, D. (David), Schully, S.D. (Sheri), Seminara, D. (Daniela), Winn, D.M. (Deborah), Wright, C.F. (Caroline), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Abstract

The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing the predictive ability is steadily increasing, but they vary widely in completeness of reporting and apparent quality. Transparent reporting of the strengths and weaknesses of these studies is important to facilitate the accumulation of evidence on genetic risk prediction. A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS), building on the principles established by previous reporting guidelines. These recommendations aim to enhance the transparency, quality and comple

Published
2011
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7. Strengthening the reporting of genetic risk prediction studies: The GRIPS statement

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Abstract

* The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. * The number of studies assessing the predictive ability is steadily increasing, but the quality and completeness of reporting varies. * A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS), building on the principles established by prior reporting guidelines. * These recommendations aim to enhance the transparency of study reporting, and thereby to improve the synthesis and application of information from multiple

Published
2011
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8. Strengthening the reporting of genetic risk prediction studies: The GRIPS statement

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Abstract

The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing the predictive ability is steadily increasing, but the quality and completeness of reporting varies. A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of genetic risk prediction studies (the GRIPS statement), building on the principles established by prior reporting guidelines. These recommendations aim to enhance the transparency of study reporting, and thereby to improve the synthesis and application of information from multiple studies that might differ in design, conduct, or analysis. A detailed Explanation and Elaboration document is published at http://www.plosmedicine.org.

Published
2011
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9. Strengthening the reporting of genetic risk prediction studies: The GRIPS statement

Author

Janssens, A.C.J.W. (Cécile), Duijn, C.M. (Cornelia) van, Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Duijn, C.M. (Cornelia) van, Ioannidis, J.P.A. (John), Tikka-Kleemola, P. (Päivi), Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Abstract

The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing the predictive ability is steadily increasing, but the quality and completeness of reporting varies. A multidisciplinary workshop sponsored by the Human Genome Epidemiology Network developed a checklist of 25 items recommended for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS), building on the principles established by prior reporting guidelines. These recommendations aim to enhance the transparency of study reporting, and thereby to improve the synthesis and application of information frommultiple studies that might differ in design, conduct, or analysis. A detailed Explanation and Elaboration document is published.

Published
2011
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10. Strengthening the reporting of genetic risk prediction studies: The GRIPS statement

Author

Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Duijn, C.M. (Cornelia) van, Little, J. (Julian), Khoury, M.J. (Muin Joseph), Janssens, A.C.J.W. (Cécile), Ioannidis, J.P.A. (John), Duijn, C.M. (Cornelia) van, Little, J. (Julian), and Khoury, M.J. (Muin Joseph)

Abstract

Summary Points * The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. * The number of studies assessing the predictive ability is steadily increasing, but the quality and completeness of reporting varies. * A multidisciplinary workshop sponsored by t

Published
2011
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11. STrengthening the REporting of Genetic Association studies (STREGA) - An extension of the STROBE statement

Author

Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y. (Guang Yong), Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), Birkett, N. (Nick), Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y. (Guang Yong), Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), and Birkett, N. (Nick)

Abstract

Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct or analysis.

Published
2009
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12. STrengthening the REporting of genetic association studies (STREGA)-an extension of the strobe statement

Author

Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), Birkett, N. (Nick), Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), and Birkett, N. (Nick)

Abstract

Summary Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic assoc

Published
2009
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13. STrengthening the REporting of genetic association studies (STREGA)- An extension of the STROBE statement

Author

Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), Birkett, N. (Nick), Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), and Birkett, N. (Nick)

Abstract

Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.

Published
2009
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14. Strengthening the reporting of genetic association studies (STREGA): An extension of the STROBE statement

Author

Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), Birkett, N. (Nick), Little, J. (Julian), Higgins, J.P.T. (Julian), Ioannidis, J.P.A. (John), Moher, D. (David), Gagnon, F. (France), Elm, E. (Erik) von, Khoury, M.J. (Muin Joseph), Cohen, B. (Barbara), Davey-Smith, G. (George), Grimshaw, J. (Jeremy), Scheet, P. (Paul), Gwinn, M. (Marta), Williamson, R.E. (Robin), Zou, G.Y., Hutchings, K. (Kim), Johnson, C.Y. (Candice), Tait, V. (Valerie), Wiens, M. (Miriam), Golding, J. (Jean), Duijn, C.M. (Cornelia) van, McLaughlin, J. (John), Paterson, A.D. (Andrew), Wells, G.A. (George), Fortier, I. (Isabel), Freedman, M. (Matthew), Zecevic, M. (Maja), King, R. (Richard), Infante-Rivard, C. (Claire), Stewart, A.F.R. (Alexandre), and Birkett, N. (Nick)

Abstract

Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.

Published
2009
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15. Assessment of cumulative evidence on genetic associations: Interim guidelines

Author

Ioannidis, J.P.A. (John), Boffetta, P. (Paolo), Little, J. (Julian), O'Brien, T.R. (Thomas), Uitterlinden, A.G. (André), Vineis, P. (Paolo), Balding, D.J. (David), Chokkalingam, A. (Anand), Dolan, S.M. (Siobhan), Flanders, W.D. (Dana), Higgins, J.P.T. (Julian), McCarthy, M.I. (Mark), McDermott, D.H. (David), Page, G.P. (Grier), Rebbeck, R. (Timothy), Seminara, D. (Daniela), Khoury, M.J. (Muin Joseph), Ioannidis, J.P.A. (John), Boffetta, P. (Paolo), Little, J. (Julian), O'Brien, T.R. (Thomas), Uitterlinden, A.G. (André), Vineis, P. (Paolo), Balding, D.J. (David), Chokkalingam, A. (Anand), Dolan, S.M. (Siobhan), Flanders, W.D. (Dana), Higgins, J.P.T. (Julian), McCarthy, M.I. (Mark), McDermott, D.H. (David), Page, G.P. (Grier), Rebbeck, R. (Timothy), Seminara, D. (Daniela), and Khoury, M.J. (Muin Joseph)

Abstract

Established guidelines for causal inference in epidemiological studies may be inappropriate for genetic associations. A consensus process was used to develop guidance criteria for assessing cumulative epidemiologic evidence in genetic associations. A proposed semi-quantitative index assigns three levels for the amount of evidence, extent of replication, and protection from bias, and also generates a composite assessment of 'strong', 'moderate' or 'weak' epidemiological credibility. In addition, we discuss how additional input and guidance can be derived from biological data. Future empirical research and consensus development are needed to develop an integrated model for combining epidemiological and biological evidence in the rapidly evolving field of investigation of genetic factors.

Published
2008
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