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Design of Gene Characterization Studies: an Overview

Design of Gene Characterization Studies: an Overview This collection of papers from the Gene Characterization Panel addresses design issues in studies aimed at assessing the population characteristics of cloned genes, such as their allele frequencies, penetrance, variation in these parameters across subpopulations, and gene-environment and gene-gene interactions. This paper provides an overview of the various designs that have been suggested, including cohort and case-control designs using independent and related individuals as well as optimal multistage sampling and hybrid designs. Various statistical (bias and efficiency) and practical considerations are suggested for evaluation of the alternative designs, with the aim of posing the question, “What is the optimal design for a particular situation”? The answer to this question clearly depends on such contextual issues as nature of the outcome variable, the gene frequency and genetic relative risk, and the importance of gene-environment and gene-gene interactions. Further methodologic work might be usefully directed toward assessment of the seriousness of the population stratification problem in general as well as methods of dealing with it, the utility of registries of high-risk families, and the merits of various hybrid designs for gene discovery and gene characterization. Oxford University Press « Previous | Next Article » Table of Contents This Article J Natl Cancer Inst Monogr (1999) 1999 (26): 17-23. This article appears in: Innovative Study Designs and Analytic Approaches to the Genetic Epidemiology of Cancer » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications II. GENE CHARACTERIZATION PANEL Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Thomas, D. C. Search for related content PubMed PubMed citation Articles by Thomas, D. C. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? Search this journal: Advanced » Current Issue May 2015 2015 (51) Alert me to new issues The Journal About this journal Rights & Permissions We are mobile – find out more Journals Career Network Editor-in-Chief Carmen J. Allegra View the JNCI editorial board For Authors Instructions to authors Author Self Archiving Policy Alerting Services Email table of contents CiteTrack XML RSS feed Corporate Services Advertising sales Reprints var taxonomies = ("MED00300"); Most Most Read Clinical Practice Guidelines on the Use of Integrative Therapies as Supportive Care in Patients Treated for Breast Cancer Descriptive Review of the Literature on Breast Cancer Outcomes: 1990 Through 2000 Prevalence of Depression in Patients With Cancer Biology of Oral Mucosa and Esophagus Chapter 6: Estrogen Metabolism by Conjugation » View all Most Read articles Most Cited Chapter 1: Human Papillomavirus and Cervical Cancer--Burden and Assessment of Causality Chapter 4: Estrogens as Endogenous Genotoxic Agents--DNA Adducts and Mutations Prevalence of Depression in Patients With Cancer Preoperative Chemotherapy in Patients With Operable Breast Cancer: Nine-Year Results From National Surgical Adjuvant Breast and Bowel Project B-18 Overview of the Randomized Trials of Radiotherapy in Ductal Carcinoma In Situ of the Breast » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. Online ISSN 1745-6614 - Print ISSN 1052-6773 Copyright © 2015 Oxford University Press Oxford Journals Oxford University Press Site Map Privacy Policy Cookie Policy Legal Notices Frequently Asked Questions Other Oxford University Press sites: Oxford University Press Oxford Journals China Oxford Journals Japan Academic & Professional books Children's & Schools Books Dictionaries & Reference Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks International Education Unit Law Medicine Music Online Products & Publishing Oxford Bibliographies Online Oxford Dictionaries Online Oxford English Dictionary Oxford Language Dictionaries Online Oxford Scholarship Online Reference Rights and Permissions Resources for Retailers & Wholesalers Resources for the Healthcare Industry Very Short Introductions World's Classics function fnc_onDomLoaded() { var query_context = getQueryContext(); PF_initOIUnderbar(query_context,":QS:default","","JRN"); PF_insertOIUnderbar(0); }; if (window.addEventListener) { window.addEventListener('load', fnc_onDomLoaded, false); } else if (window.attachEvent) { window.attachEvent('onload', fnc_onDomLoaded); } var gaJsHost = (("https:" == document.location.protocol) ? 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Design of Gene Characterization Studies: an Overview

JNCI Monographs , Volume 1999 (26) – Dec 1, 1999

Design of Gene Characterization Studies: an Overview

JNCI Monographs , Volume 1999 (26) – Dec 1, 1999

Abstract

This collection of papers from the Gene Characterization Panel addresses design issues in studies aimed at assessing the population characteristics of cloned genes, such as their allele frequencies, penetrance, variation in these parameters across subpopulations, and gene-environment and gene-gene interactions. This paper provides an overview of the various designs that have been suggested, including cohort and case-control designs using independent and related individuals as well as optimal multistage sampling and hybrid designs. Various statistical (bias and efficiency) and practical considerations are suggested for evaluation of the alternative designs, with the aim of posing the question, “What is the optimal design for a particular situation”? The answer to this question clearly depends on such contextual issues as nature of the outcome variable, the gene frequency and genetic relative risk, and the importance of gene-environment and gene-gene interactions. Further methodologic work might be usefully directed toward assessment of the seriousness of the population stratification problem in general as well as methods of dealing with it, the utility of registries of high-risk families, and the merits of various hybrid designs for gene discovery and gene characterization. Oxford University Press « Previous | Next Article » Table of Contents This Article J Natl Cancer Inst Monogr (1999) 1999 (26): 17-23. This article appears in: Innovative Study Designs and Analytic Approaches to the Genetic Epidemiology of Cancer » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications II. GENE CHARACTERIZATION PANEL Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Thomas, D. C. Search for related content PubMed PubMed citation Articles by Thomas, D. C. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? Search this journal: Advanced » Current Issue May 2015 2015 (51) Alert me to new issues The Journal About this journal Rights & Permissions We are mobile – find out more Journals Career Network Editor-in-Chief Carmen J. Allegra View the JNCI editorial board For Authors Instructions to authors Author Self Archiving Policy Alerting Services Email table of contents CiteTrack XML RSS feed Corporate Services Advertising sales Reprints var taxonomies = ("MED00300"); Most Most Read Clinical Practice Guidelines on the Use of Integrative Therapies as Supportive Care in Patients Treated for Breast Cancer Descriptive Review of the Literature on Breast Cancer Outcomes: 1990 Through 2000 Prevalence of Depression in Patients With Cancer Biology of Oral Mucosa and Esophagus Chapter 6: Estrogen Metabolism by Conjugation » View all Most Read articles Most Cited Chapter 1: Human Papillomavirus and Cervical Cancer--Burden and Assessment of Causality Chapter 4: Estrogens as Endogenous Genotoxic Agents--DNA Adducts and Mutations Prevalence of Depression in Patients With Cancer Preoperative Chemotherapy in Patients With Operable Breast Cancer: Nine-Year Results From National Surgical Adjuvant Breast and Bowel Project B-18 Overview of the Randomized Trials of Radiotherapy in Ductal Carcinoma In Situ of the Breast » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. Online ISSN 1745-6614 - Print ISSN 1052-6773 Copyright © 2015 Oxford University Press Oxford Journals Oxford University Press Site Map Privacy Policy Cookie Policy Legal Notices Frequently Asked Questions Other Oxford University Press sites: Oxford University Press Oxford Journals China Oxford Journals Japan Academic & Professional books Children's & Schools Books Dictionaries & Reference Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks International Education Unit Law Medicine Music Online Products & Publishing Oxford Bibliographies Online Oxford Dictionaries Online Oxford English Dictionary Oxford Language Dictionaries Online Oxford Scholarship Online Reference Rights and Permissions Resources for Retailers & Wholesalers Resources for the Healthcare Industry Very Short Introductions World's Classics function fnc_onDomLoaded() { var query_context = getQueryContext(); PF_initOIUnderbar(query_context,":QS:default","","JRN"); PF_insertOIUnderbar(0); }; if (window.addEventListener) { window.addEventListener('load', fnc_onDomLoaded, false); } else if (window.attachEvent) { window.attachEvent('onload', fnc_onDomLoaded); } var gaJsHost = (("https:" == document.location.protocol) ? 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Publisher
Oxford University Press
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Copyright © 2015 Oxford University Press
ISSN
1052-6773
eISSN
1745-6614
DOI
jncimono;1999/26/17
Publisher site
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Abstract

This collection of papers from the Gene Characterization Panel addresses design issues in studies aimed at assessing the population characteristics of cloned genes, such as their allele frequencies, penetrance, variation in these parameters across subpopulations, and gene-environment and gene-gene interactions. This paper provides an overview of the various designs that have been suggested, including cohort and case-control designs using independent and related individuals as well as optimal multistage sampling and hybrid designs. Various statistical (bias and efficiency) and practical considerations are suggested for evaluation of the alternative designs, with the aim of posing the question, “What is the optimal design for a particular situation”? The answer to this question clearly depends on such contextual issues as nature of the outcome variable, the gene frequency and genetic relative risk, and the importance of gene-environment and gene-gene interactions. Further methodologic work might be usefully directed toward assessment of the seriousness of the population stratification problem in general as well as methods of dealing with it, the utility of registries of high-risk families, and the merits of various hybrid designs for gene discovery and gene characterization. Oxford University Press « Previous | Next Article » Table of Contents This Article J Natl Cancer Inst Monogr (1999) 1999 (26): 17-23. This article appears in: Innovative Study Designs and Analytic Approaches to the Genetic Epidemiology of Cancer » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications II. GENE CHARACTERIZATION PANEL Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Thomas, D. C. Search for related content PubMed PubMed citation Articles by Thomas, D. C. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? Search this journal: Advanced » Current Issue May 2015 2015 (51) Alert me to new issues The Journal About this journal Rights & Permissions We are mobile – find out more Journals Career Network Editor-in-Chief Carmen J. Allegra View the JNCI editorial board For Authors Instructions to authors Author Self Archiving Policy Alerting Services Email table of contents CiteTrack XML RSS feed Corporate Services Advertising sales Reprints var taxonomies = ("MED00300"); Most Most Read Clinical Practice Guidelines on the Use of Integrative Therapies as Supportive Care in Patients Treated for Breast Cancer Descriptive Review of the Literature on Breast Cancer Outcomes: 1990 Through 2000 Prevalence of Depression in Patients With Cancer Biology of Oral Mucosa and Esophagus Chapter 6: Estrogen Metabolism by Conjugation » View all Most Read articles Most Cited Chapter 1: Human Papillomavirus and Cervical Cancer--Burden and Assessment of Causality Chapter 4: Estrogens as Endogenous Genotoxic Agents--DNA Adducts and Mutations Prevalence of Depression in Patients With Cancer Preoperative Chemotherapy in Patients With Operable Breast Cancer: Nine-Year Results From National Surgical Adjuvant Breast and Bowel Project B-18 Overview of the Randomized Trials of Radiotherapy in Ductal Carcinoma In Situ of the Breast » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. Online ISSN 1745-6614 - Print ISSN 1052-6773 Copyright © 2015 Oxford University Press Oxford Journals Oxford University Press Site Map Privacy Policy Cookie Policy Legal Notices Frequently Asked Questions Other Oxford University Press sites: Oxford University Press Oxford Journals China Oxford Journals Japan Academic & Professional books Children's & Schools Books Dictionaries & Reference Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks International Education Unit Law Medicine Music Online Products & Publishing Oxford Bibliographies Online Oxford Dictionaries Online Oxford English Dictionary Oxford Language Dictionaries Online Oxford Scholarship Online Reference Rights and Permissions Resources for Retailers & Wholesalers Resources for the Healthcare Industry Very Short Introductions World's Classics function fnc_onDomLoaded() { var query_context = getQueryContext(); PF_initOIUnderbar(query_context,":QS:default","","JRN"); PF_insertOIUnderbar(0); }; if (window.addEventListener) { window.addEventListener('load', fnc_onDomLoaded, false); } else if (window.attachEvent) { window.attachEvent('onload', fnc_onDomLoaded); } var gaJsHost = (("https:" == document.location.protocol) ? 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Journal

JNCI MonographsOxford University Press

Published: Dec 1, 1999

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