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This volume details fast-moving research while providing in-depth descriptions of methods and analytical approaches that are helping to understand the genome and how it is related to complex diseases. Chapters guide the reader through common and rare variation, gene-gene and gene-environment interactions and state-of-the-art approaches for the synthesis of genome-wide and gene expression data. Novel approaches for associations in the HLA region, family-based designs, Mendelian Randomization and Copy Number Variation are also presented. The volume concludes with the challenges researchers face while moving from identifying variants to their functional role and potential drug targets. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, a thorough presentation of methods and approaches and tips on troubleshooting and avoiding known pitfalls.

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1. Introduction to Epidemiological Studies

Lazaros Belbasis and Vanesa Bellou

2. Key Concepts in Genetic Epidemiology

Kalliope Panoutsopoulou and Eleanor Wheeler

3. Quality Control of Common and Rare Variants

Kalliope Panoutsopoulou and Klaudia Walter

4. Genome Wide Association Studies

Abbas Dehghan

5. Assessing Rare Variation in Complex Traits

Karoline Kuchenbaecker and Emil Vincent Rosenbaum Appel

6. Meta-analysis of Common and Rare Variants

Kyriaki Michailidou

7. Gene-gene and Gene-environment Interactions

Andrew T. DeWan

8. Genetic Association in the HLA Region

Loukas Moutsianas and Javier Gutierrez-Achury

9. Novel Methods for Family-based Genetic Studies

Qi Yan

10. Methods for Polygenic Traits

Raha Pazoki

11. Multivariate Methods for Meta-analysis of Genetic Association Studies

Niki L. Dimou, Katerina G. Pantavou, Georgia G. Braliou, and Pantelis G. Bagos
12. Methods of Analysis and Meta-Analysis for Identifying Differentially Expressed Genes
Panagiota I Kontou, Athanasia Pavlopoulou, and Pantelis G. Bagos

13. A Primer in Mendelian Randomization Methodology with a Focus on Utilizing Published Summary Association Data

Niki L. Dimou and Konstantinos K. Tsilidis

14. Copy Number Variation

Aurélien Macé, Zoltán Kutalik, and Armand Valsesia

15. From Identification to Function: Current Strategies to Prioritise and Follow-Up GWAS Results

Antonio J Berlanga-Taylor

16. Translating Human Genetics into Novel Drug Targets

Karol Estrada

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