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Principles for the post-GWAS functional characterisation of risk loci
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Zeitschriftentitel: | Nature Precedings |
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Personen und Körperschaften: | , , , , , , , , , , , , , , |
In: | Nature Precedings, 2010 |
Format: | E-Article |
Sprache: | Englisch |
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Springer Science and Business Media LLC
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author_facet |
Monteiro, Alvaro Coetzee, Gerhard Freedman, Matthew De Biasi, Mariella Casey, Graham Duggan, Dave Risch, Angela Plass, Christoph Liu, Pengyuan James, Michael Vikis, Haris Tichelaar, Jay You, Ming Gayther, Simon Mills, Ian Monteiro, Alvaro Coetzee, Gerhard Freedman, Matthew De Biasi, Mariella Casey, Graham Duggan, Dave Risch, Angela Plass, Christoph Liu, Pengyuan James, Michael Vikis, Haris Tichelaar, Jay You, Ming Gayther, Simon Mills, Ian |
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author |
Monteiro, Alvaro Coetzee, Gerhard Freedman, Matthew De Biasi, Mariella Casey, Graham Duggan, Dave Risch, Angela Plass, Christoph Liu, Pengyuan James, Michael Vikis, Haris Tichelaar, Jay You, Ming Gayther, Simon Mills, Ian |
spellingShingle |
Monteiro, Alvaro Coetzee, Gerhard Freedman, Matthew De Biasi, Mariella Casey, Graham Duggan, Dave Risch, Angela Plass, Christoph Liu, Pengyuan James, Michael Vikis, Haris Tichelaar, Jay You, Ming Gayther, Simon Mills, Ian Nature Precedings Principles for the post-GWAS functional characterisation of risk loci Marketing Organizational Behavior and Human Resource Management Strategy and Management Drug Discovery Pharmaceutical Science Pharmacology |
author_sort |
monteiro, alvaro |
spelling |
Monteiro, Alvaro Coetzee, Gerhard Freedman, Matthew De Biasi, Mariella Casey, Graham Duggan, Dave Risch, Angela Plass, Christoph Liu, Pengyuan James, Michael Vikis, Haris Tichelaar, Jay You, Ming Gayther, Simon Mills, Ian 1756-0357 Springer Science and Business Media LLC Marketing Organizational Behavior and Human Resource Management Strategy and Management Drug Discovery Pharmaceutical Science Pharmacology http://dx.doi.org/10.1038/npre.2010.5162.1 <jats:title>Abstract</jats:title><jats:p>Several challenges lie ahead in assigning functionality to susceptibility SNPs. For example, most effect sizes are small relative to effects seen in monogenic diseases, with per allele odds ratios usually ranging from 1.15 to 1.3. It is unclear whether current molecular biology methods have enough resolution to differentiate such small effects. Our objective here is therefore to provide a set of recommendations to optimize the allocation of effort and resources in order maximize the chances of elucidating the functional contribution of specific loci to the disease phenotype. It has been estimated that 88% of currently identified disease-associated SNP are intronic or intergenic. Thus, in this paper we will focus our attention on the analysis of non-coding variants and outline a hierarchical approach for post-GWAS functional studies.</jats:p> Principles for the post-GWAS functional characterisation of risk loci Nature Precedings |
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Principles for the post-GWAS functional characterisation of risk loci |
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Principles for the post-GWAS functional characterisation of risk loci |
title_full |
Principles for the post-GWAS functional characterisation of risk loci |
title_fullStr |
Principles for the post-GWAS functional characterisation of risk loci |
title_full_unstemmed |
Principles for the post-GWAS functional characterisation of risk loci |
title_short |
Principles for the post-GWAS functional characterisation of risk loci |
title_sort |
principles for the post-gwas functional characterisation of risk loci |
topic |
Marketing Organizational Behavior and Human Resource Management Strategy and Management Drug Discovery Pharmaceutical Science Pharmacology |
url |
http://dx.doi.org/10.1038/npre.2010.5162.1 |
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2010 |
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<jats:title>Abstract</jats:title><jats:p>Several challenges lie ahead in assigning functionality to susceptibility SNPs. For example, most effect sizes are small relative to effects seen in monogenic diseases, with per allele odds ratios usually ranging from 1.15 to 1.3. It is unclear whether current molecular biology methods have enough resolution to differentiate such small effects. Our objective here is therefore to provide a set of recommendations to optimize the allocation of effort and resources in order maximize the chances of elucidating the functional contribution of specific loci to the disease phenotype. It has been estimated that 88% of currently identified disease-associated SNP are intronic or intergenic. Thus, in this paper we will focus our attention on the analysis of non-coding variants and outline a hierarchical approach for post-GWAS functional studies.</jats:p> |
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author | Monteiro, Alvaro, Coetzee, Gerhard, Freedman, Matthew, De Biasi, Mariella, Casey, Graham, Duggan, Dave, Risch, Angela, Plass, Christoph, Liu, Pengyuan, James, Michael, Vikis, Haris, Tichelaar, Jay, You, Ming, Gayther, Simon, Mills, Ian |
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description | <jats:title>Abstract</jats:title><jats:p>Several challenges lie ahead in assigning functionality to susceptibility SNPs. For example, most effect sizes are small relative to effects seen in monogenic diseases, with per allele odds ratios usually ranging from 1.15 to 1.3. It is unclear whether current molecular biology methods have enough resolution to differentiate such small effects. Our objective here is therefore to provide a set of recommendations to optimize the allocation of effort and resources in order maximize the chances of elucidating the functional contribution of specific loci to the disease phenotype. It has been estimated that 88% of currently identified disease-associated SNP are intronic or intergenic. Thus, in this paper we will focus our attention on the analysis of non-coding variants and outline a hierarchical approach for post-GWAS functional studies.</jats:p> |
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spelling | Monteiro, Alvaro Coetzee, Gerhard Freedman, Matthew De Biasi, Mariella Casey, Graham Duggan, Dave Risch, Angela Plass, Christoph Liu, Pengyuan James, Michael Vikis, Haris Tichelaar, Jay You, Ming Gayther, Simon Mills, Ian 1756-0357 Springer Science and Business Media LLC Marketing Organizational Behavior and Human Resource Management Strategy and Management Drug Discovery Pharmaceutical Science Pharmacology http://dx.doi.org/10.1038/npre.2010.5162.1 <jats:title>Abstract</jats:title><jats:p>Several challenges lie ahead in assigning functionality to susceptibility SNPs. For example, most effect sizes are small relative to effects seen in monogenic diseases, with per allele odds ratios usually ranging from 1.15 to 1.3. It is unclear whether current molecular biology methods have enough resolution to differentiate such small effects. Our objective here is therefore to provide a set of recommendations to optimize the allocation of effort and resources in order maximize the chances of elucidating the functional contribution of specific loci to the disease phenotype. It has been estimated that 88% of currently identified disease-associated SNP are intronic or intergenic. Thus, in this paper we will focus our attention on the analysis of non-coding variants and outline a hierarchical approach for post-GWAS functional studies.</jats:p> Principles for the post-GWAS functional characterisation of risk loci Nature Precedings |
spellingShingle | Monteiro, Alvaro, Coetzee, Gerhard, Freedman, Matthew, De Biasi, Mariella, Casey, Graham, Duggan, Dave, Risch, Angela, Plass, Christoph, Liu, Pengyuan, James, Michael, Vikis, Haris, Tichelaar, Jay, You, Ming, Gayther, Simon, Mills, Ian, Nature Precedings, Principles for the post-GWAS functional characterisation of risk loci, Marketing, Organizational Behavior and Human Resource Management, Strategy and Management, Drug Discovery, Pharmaceutical Science, Pharmacology |
title | Principles for the post-GWAS functional characterisation of risk loci |
title_full | Principles for the post-GWAS functional characterisation of risk loci |
title_fullStr | Principles for the post-GWAS functional characterisation of risk loci |
title_full_unstemmed | Principles for the post-GWAS functional characterisation of risk loci |
title_short | Principles for the post-GWAS functional characterisation of risk loci |
title_sort | principles for the post-gwas functional characterisation of risk loci |
title_unstemmed | Principles for the post-GWAS functional characterisation of risk loci |
topic | Marketing, Organizational Behavior and Human Resource Management, Strategy and Management, Drug Discovery, Pharmaceutical Science, Pharmacology |
url | http://dx.doi.org/10.1038/npre.2010.5162.1 |