Literature DB >> 18931511

What do we mean by 'replication' and 'validation' in genome-wide association studies?

Bernd-Wolfgang Igl1, Inke R Konig, Andreas Ziegler.   

Abstract

It has been acknowledged that results from genome-wide association studies need to be reproduced in further independent samples. This includes both aspects of replication and validation. Although often used interchangeably, both of these terms have a specific unique meaning and are not synonyms. Based on a number of applications from the literature producing a certain amount of confusion, our aim therefore is to clarify the definition of 'replication' and 'validation' and propose standards of their usage. Copyright 2008 S. Karger AG, Basel.

Mesh:

Year:  2008        PMID: 18931511     DOI: 10.1159/000164400

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  20 in total

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Authors:  Guolian Kang; Wei Liu; Cheng Cheng; Carmen L Wilson; Geoffrey Neale; Jun J Yang; Kirsten K Ness; Leslie L Robison; Melissa M Hudson; Deo Kumar Srivastava
Journal:  J Hum Genet       Date:  2015-09-17       Impact factor: 3.172

Review 2.  Genetics of bronchopulmonary dysplasia in the age of genomics.

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Journal:  Curr Opin Pediatr       Date:  2010-04       Impact factor: 2.856

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Authors:  Inna G Ovsyannikova; Gregory A Poland
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Authors:  Hancong Tang; Theresa Hahn; Ezgi Karaesmen; Abbas A Rizvi; Junke Wang; Sophie Paczesny; Tao Wang; Leah Preus; Qianqian Zhu; Yiwen Wang; Christopher A Haiman; Daniel Stram; Loreall Pooler; Xin Sheng; David Van Den Berg; Guy Brock; Amy Webb; Marcelo C Pasquini; Philip L McCarthy; Stephen R Spellman; Lara E Sucheston-Campbell
Journal:  Blood Adv       Date:  2019-08-13

Review 5.  Statistical learning approaches in the genetic epidemiology of complex diseases.

Authors:  Anne-Laure Boulesteix; Marvin N Wright; Sabine Hoffmann; Inke R König
Journal:  Hum Genet       Date:  2019-05-02       Impact factor: 4.132

6.  Evaluating diagnostic accuracy of genetic profiles in affected offspring families.

Authors:  Jerome Carayol; Frédéric Tores; Inke R König; Jörg Hager; Andreas Ziegler
Journal:  Stat Med       Date:  2010-09-30       Impact factor: 2.373

7.  The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities.

Authors:  Lauren J Beesley; Maxwell Salvatore; Lars G Fritsche; Anita Pandit; Arvind Rao; Chad Brummett; Cristen J Willer; Lynda D Lisabeth; Bhramar Mukherjee
Journal:  Stat Med       Date:  2019-12-20       Impact factor: 2.373

8.  Recipient and donor genetic variants associated with mortality after allogeneic hematopoietic cell transplantation.

Authors:  Paul J Martin; David M Levine; Barry E Storer; Sarah C Nelson; Xinyuan Dong; John A Hansen
Journal:  Blood Adv       Date:  2020-07-28

9.  Replication and validation of genetic polymorphisms associated with survival after allogeneic blood or marrow transplant.

Authors:  Ezgi Karaesmen; Abbas A Rizvi; Leah M Preus; Philip L McCarthy; Marcelo C Pasquini; Kenan Onel; Xiaochun Zhu; Stephen Spellman; Christopher A Haiman; Daniel O Stram; Loreall Pooler; Xin Sheng; Qianqian Zhu; Li Yan; Qian Liu; Qiang Hu; Amy Webb; Guy Brock; Alyssa I Clay-Gilmour; Sebastiano Battaglia; David Tritchler; Song Liu; Theresa Hahn; Lara E Sucheston-Campbell
Journal:  Blood       Date:  2017-08-15       Impact factor: 22.113

10.  Genome-wide association studies: quality control and population-based measures.

Authors:  Andreas Ziegler
Journal:  Genet Epidemiol       Date:  2009       Impact factor: 2.135

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