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Inouye, M.

Citation

Inouye, M. (2010, April 20). Algorithms and analysis of human disease genomics. Retrieved from https://hdl.handle.net/1887/15277

Version: Corrected Publisher’s Version

License: Licence agreement concerning inclusion of doctoral

thesis in the Institutional Repository of the University

of Leiden

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ALGORITHMS AND ANALYSIS OF HUMAN DISEASE GENOMICS

Michael Inouye

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Colofon

Michael Inouye

Algorithms and analysis of human disease genomics PhD thesis Leiden University, 20 April 2010

Cover credit: Wellcome Images, Wellcome Library, London

Printed by: GVO drukkers & vormgevers B.V. | Ponsen & Looijen, Ede

ISBN: 978-90-6464-386-6

© 2010 Michael Inouye Except (parts of):

Chapter 2: Oxford University Press Chapter 3: Nature Publishing Group Chapter 4: Lancet Publishing Group

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ALGORITHMS AND ANALYSIS OF HUMAN DISEASE GENOMICS

PROEFSCHRIFT

ter verkrijging van

de graad van Doctor aan de Universiteit Leiden, op gezag van Rector Magnificus prof.mr. P.F. van der Heijden,

volgens besluit van het College voor Promoties te verdedigen op dinsdag 20 april 2010

klokke 11.15 uur

door

MICHAEL INOUYE geboren te Livingston (USA) in 1981

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PROMOTORES

Prof. Dr. Gertjan B. van Ommen

Prof. Dr. Leena Peltonen (Wellcome Trust Sanger Institute)

OVERIGE LEDEN

Prof. Dr. Johan T. den Dunnen

Prof. Dr. Aarno Palotie (Wellcome Trust Sanger Institute) Prof. Dr. Dorret Boomsma (VU Amsterdam)

The studies described in this thesis were performed at the Wellcome Trust Sanger Institute (Cambridge, United Kingdom) and at the Department of Human Genetics of the Leiden University Medical Center (Leiden, The Netherlands).

This work was supported with funding by the Wellcome Trust.

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CONTENTS

1. Introduction and aims of the thesis 7

2. A genotype calling algorithm for the Illumina BeadArray platform 22 Bioinformatics. 2007 Oct 15;23(20):2741-6

3. Whole genome-amplified DNA: insights and imputation 29 Nature Methods. 2008 Apr;5(4):279-80

4. Bone mineral density, osteoporosis, and osteoporotic fractures: a 67 genome-wide association study

The Lancet. 2008 May 3;371(9623):1505-12

5. An immune response pathway associated with blood lipid levels 88 Submitted

6. General discussion 118

Summary 125

Nederlandse samenvatting 127

List of publications 129

Curriculum Vitae 132

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