Chapter 12 – Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases Figures text

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Human Genome Epidemiology (2nd ed.): Building the evidence for using genetic information to improve health and prevent disease

“The findings and conclusions in this book are those of the author(s) and do not
necessarily represent the views of the funding agency.”
These chapters were published with modifications by Oxford University Press (2010)

Muin J. Khoury, Lars Bertram, Paolo Boffetta, Adam S. Butterworth, Stephen J. Chanock, Siobhan M. Dolan, Isabel Fortier, Montserrat Garcia-Closas, Marta Gwinn, Julian P. T. Higgins, A. Cecile J. W. Janssens, James M. Ostell, Ryan P. Owen, Roberta A. Pagon, Timothy R. Rebbeck, Nathaniel Rothman, Jonine L. Bernstein, Paul R. Burton, Harry Campbell, Anand P. Chokkalingam, Helena Furberg, Julian Little, Thomas R. O’Brien, Daniela Seminara, Paolo Vineis, Deborah M. Winn, Wei Yu, and John P. A. Ioannidis

 

Statistical significance (–log10[P]) Number of loci identified by GWAS
Figures 12-1
5 ~68
6 ~22
7 ~21
8 ~17
9 ~20
10 ~15
11 ~16
12 ~11
13 ~9
14 ~9
15 ~5
16 ~3
17 ~9
18 ~1
19 ~8
20 ~1
21 0
22 ~1
23 ~2
24 0
25 ~1
26 0
27 ~2
28 ~2
29 ~1
30 0
Odds ratio for discovered effect Number of loci identified by GWAS
Odds ratio for discovered effect and Number of loci identified by GWAS
1.00 ~95
1.25 ~65
1.50 ~20
1.75 ~15
2.00 ~10
2.25 ~8
2.50 ~9
2.75 ~5
3.00 0
Odds ratio for discovered effect Number of loci identified with –log[P]>7
Odds ratio for discovered effect and Number of loci identified with –log[P]>7
1.00 ~58
1.25 ~49
1.50 ~15
1.75 ~6
2.00 ~5
2.25 ~4
2.50 ~3
2.75 0
3.00 0

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Figure 12-2
A vision for collaboration among disease- and gene-specific investigators, systematic reviewers, and online publishers. HuGENet, Human Genome Epidemiology Network; HVP, Human Variome Project; P3G, Public Population Project in Genomics

 

A pyramid made out of text boxes connected by lines

Top text box:

Networks/Investigators
(Research Publications,
Field-Specific Databases)

Middle text box:

Global Collaboration
Platforms
(HuGENet, P3G, HVP)

Bottom left text box:

Online Publishers
(National Library of
Medicine, Journals,
Informatics Tools)

Bottom right text box:

Systematic Reviewers
(Appraisal, Field Synopses,
Encyclopedia Entries,
Updates)

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