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GWAS Meta-Analysis: Methodology and Application to Human Meiotic Recombination

Begum, Ferdouse (2013) GWAS Meta-Analysis: Methodology and Application to Human Meiotic Recombination. Doctoral Dissertation, University of Pittsburgh. (Unpublished)

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Human meiotic recombination is critical to successful human reproduction and to maintain genetic diversity. Recombination anomalies are associated with aberrant meiotic outcomes with significant consequences. One important method for studying recombination is genome-wide association studies (GWAS) of recombination phenotypes. Because such studies require nuclear or three-generation family samples that have been genotyped on GWAS chips, the number of suitable datasets is limited. The goal of this dissertation is to develop methods for increasing the available sample sizes for GWAS of recombination phenotypes.

We developed two different approaches for increasing sample size. First, we made it possible to include additional family types in the analysis. We developed methods for scoring recombination for half-sibling pedigrees and three generation pedigrees with ungenotyped individuals. Second, we developed a regionally smoothed meta-analysis method for GWAS data, which will allow the combination datasets that have been genotyped on different chips. This method will help increase available sample sizes for recombination studies, but is also applicable to all GWAS studies.

The public health significance of this work is that our developments will allow us to find new genes that control recombination and more information about already-known genes. This information can be used for improved treatment and prevention of the consequences of aberrant recombination, including infertility and births with significant chromosomal anomalies.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Begum, Ferdouseferdouse@pitt.eduFERDOUSE
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairFeingold, Eleanorfeingold@pitt.eduFEINGOLD
Committee MemberTseng, Georgectseng@pitt.eduCTSENG
Committee CoChairKamboh, M Ilyaskamboh@pitt.eduKAMBOH
Committee MemberWahed, Abdus Swahed@pitt.eduWAHED
Committee MemberLin, Yanyal14@pitt.eduYAL14
Date: 27 September 2013
Date Type: Publication
Defense Date: 11 July 2013
Approval Date: 27 September 2013
Submission Date: 22 July 2013
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 192
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Biostatistics
Degree: PhD - Doctor of Philosophy
Thesis Type: Doctoral Dissertation
Refereed: Yes
Uncontrolled Keywords: Human Meiotic Recombination, GWAS meta-analysis, Recombination scoring methods, Regionally smoothed meta-analysis
Related URLs:
Date Deposited: 27 Sep 2013 14:39
Last Modified: 15 Nov 2016 14:14


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