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Locating disease genes using measure...

Song, Kijoung.

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Locating disease genes using measures of disequilibrium.

Record Type:	Electronic resources : Monograph/item
Title/Author:	Locating disease genes using measures of disequilibrium./
Author:	Song, Kijoung.
Description:	203 p.
Notes:	Source: Dissertation Abstracts International, Volume: 64-07, Section: B, page: 3033.
Contained By:	Dissertation Abstracts International64-07B.
Subject:	Biology, Biostatistics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3100019

Locating disease genes using measures of disequilibrium.
Song, Kijoung.

Locating disease genes using measures of disequilibrium. - 203 p.

Source: Dissertation Abstracts International, Volume: 64-07, Section: B, page: 3033.

Thesis (Ph.D.)--Case Western Reserve University (Health Sciences), 2003.

First, I discussed the false positives that arise because of cryptic relatedness and population substructure and my aims to extend and evaluate the Hardy-Weinberg disequilibrium (HWD) methods for finding a disease-susceptibility locus, allowing for an inbreeding coefficient (F) in a similar way that Devlin and Roeder (1999) allowed for inbreeding in a case-control study. Then I compared the HWD measure, the common direct measure of linkage disequilibrium and Armitage's trend test, both without population substructure (F = 0) and with population substructure (F ≠ 0), for a single marker. The HWD test statistic has a small rate of false positives caused by the effect of the population stratification. In addition, the rate of power loss for the HWD test is much less than that for the genomic control (GC) test after each test statistic is adjusted by the estimate of its lambda, which measures the amount of variance inflation caused by the inbreeding coefficient (F). However, in the multiplicative model, the HWD test has no power and high Type I error. Second, I presented a new method for fine-mapping using a case control design. The new method, termed "the weighted average" (WA), was developed by averaging Armitage's trend test statistic and the difference between the HWD test statistic for N cases and N controls. Thus, one of the main features of the weighted average method is to reinforce the weaknesses, and to maintain the strong points, of both Armitage's trend test and the HWD test. From the simulation, the weighted average test statistic has better power than either Armitage's trend test or the HWD test (N cases only) in the recessive and additive model. In the multiplicative model, the WA test has 30%&sim;45% power in the peak area.Subjects--Topical Terms:

1018416
Biology, Biostatistics.

Locating disease genes using measures of disequilibrium.
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100 1 $a Song, Kijoung. $3 1948142
245 1 0 $a Locating disease genes using measures of disequilibrium.
300 $a 203 p.
500 $a Source: Dissertation Abstracts International, Volume: 64-07, Section: B, page: 3033.
500 $a Adviser: Robert C. Elston.
502 $a Thesis (Ph.D.)--Case Western Reserve University (Health Sciences), 2003.
520 $a First, I discussed the false positives that arise because of cryptic relatedness and population substructure and my aims to extend and evaluate the Hardy-Weinberg disequilibrium (HWD) methods for finding a disease-susceptibility locus, allowing for an inbreeding coefficient (F) in a similar way that Devlin and Roeder (1999) allowed for inbreeding in a case-control study. Then I compared the HWD measure, the common direct measure of linkage disequilibrium and Armitage's trend test, both without population substructure (F = 0) and with population substructure (F ≠ 0), for a single marker. The HWD test statistic has a small rate of false positives caused by the effect of the population stratification. In addition, the rate of power loss for the HWD test is much less than that for the genomic control (GC) test after each test statistic is adjusted by the estimate of its lambda, which measures the amount of variance inflation caused by the inbreeding coefficient (F). However, in the multiplicative model, the HWD test has no power and high Type I error. Second, I presented a new method for fine-mapping using a case control design. The new method, termed "the weighted average" (WA), was developed by averaging Armitage's trend test statistic and the difference between the HWD test statistic for N cases and N controls. Thus, one of the main features of the weighted average method is to reinforce the weaknesses, and to maintain the strong points, of both Armitage's trend test and the HWD test. From the simulation, the weighted average test statistic has better power than either Armitage's trend test or the HWD test (N cases only) in the recessive and additive model. In the multiplicative model, the WA test has 30%&sim;45% power in the peak area.
590 $a School code: 0499.
650 4 $a Biology, Biostatistics. $3 1018416
690 $a 0308
710 2 0 $a Case Western Reserve University (Health Sciences). $3 1250782
773 0 $t Dissertation Abstracts International $g 64-07B.
790 1 0 $a Elston, Robert C., $e advisor
790 $a 0499
791 $a Ph.D.
792 $a 2003
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3100019