| dc.identifier.uri | http://hdl.handle.net/1951/55675 | |
| dc.identifier.uri | http://hdl.handle.net/11401/72711 | |
| dc.description.sponsorship | This work is sponsored by the Stony Brook University Graduate School in compliance with the requirements for completion of degree. | en_US |
| dc.format | Monograph | |
| dc.format.medium | Electronic Resource | en_US |
| dc.language.iso | en_US | |
| dc.publisher | The Graduate School, Stony Brook University: Stony Brook, NY. | |
| dc.type | Dissertation | |
| dcterms.abstract | Whole genome sequencing and whole exome sequencing are developing techniques to explore the associations between rare variants and complex diseases. The number of variants that are expected to appear in a randomly selected group that do not appear in a different group randomly selected from the same population has unknown mean and variance. Expressions for these quantities are derived here. Numerical values are calculated assuming that the frequency of a rare variant has a beta distribution using parameters estimated for four populations. Extensions to the number of variants that appear in r ( r >1) members of a randomly selected group with none in the comparison group are given. These calculations suggest that a genome wide study of rare variants would generate an extremely large number of false positives. Similarly, an exome wide search would also generate a smaller but still overwhelming number of false positives. A search restricted to variants in a specified gene would not generate excessive numbers of false positives. The expectations using the beta model fit a SNP database well when the underlying beta distribution was restricted to variant frequencies greater than 0.001. | |
| dcterms.available | 2012-05-15T18:07:23Z | |
| dcterms.available | 2015-04-24T14:53:18Z | |
| dcterms.contributor | Nancy R. Mendell | en_US |
| dcterms.contributor | Gouma, Perena | en_US |
| dcterms.contributor | Haipeng Xing | en_US |
| dcterms.contributor | Eli Hatchwell. | en_US |
| dcterms.creator | Xu, Wenjie | |
| dcterms.dateAccepted | 2012-05-15T18:07:23Z | |
| dcterms.dateAccepted | 2015-04-24T14:53:18Z | |
| dcterms.dateSubmitted | 2012-05-15T18:07:23Z | |
| dcterms.dateSubmitted | 2015-04-24T14:53:18Z | |
| dcterms.description | Department of Applied Mathematics and Statistics | en_US |
| dcterms.format | Monograph | |
| dcterms.format | Application/PDF | en_US |
| dcterms.identifier | http://hdl.handle.net/1951/55675 | |
| dcterms.identifier | Xu_grad.sunysb_0771E_10343.pdf | en_US |
| dcterms.identifier | http://hdl.handle.net/11401/72711 | |
| dcterms.issued | 2010-12-01 | |
| dcterms.language | en_US | |
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Xu_grad.sunysb_0771E_10343.pdf: 662719 bytes, checksum: af83c1d39fe8548eedee384d0e336816 (MD5)
Previous issue date: 1 | en |
| dcterms.provenance | Made available in DSpace on 2015-04-24T14:53:18Z (GMT). No. of bitstreams: 3
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Previous issue date: 1 | en |
| dcterms.publisher | The Graduate School, Stony Brook University: Stony Brook, NY. | |
| dcterms.subject | beta distribution, case-control study, exome sequencing, false positives, rare variant, whole genome sequencing | |
| dcterms.subject | Statistics -- Genetics | |
| dcterms.title | Distribution of Number of Rare Variants Appearing in Cases but Not Controls in Genome-wide Studies | |
| dcterms.type | Dissertation | |
