Paper Info
Title
Increasing power by using haplotype similarity in a multimarker transmission/disequilibrium test.
Abstract
It is already known that power in multimarker transmission/disequilibrium tests may improve with the number of markers as some associations may require several markers to be captured. However, a mechanism such as haplotype grouping must be used to avoid incremental complexity with the number of markers. 2G, a state-of-the-art transmission/disequilibrium test, implements this mechanism to its maximum extent by grouping haplotypes into only two groups, high and low-risk haplotypes, so that the test has only one degree of freedom regardless of the number of markers. The test checks whether those haplotypes more often transmitted from parents to offspring are truly high-risk haplotypes. In this paper we use haplotype similarity as prior knowledge to classify haplotypes as high or low risk ones and start with those haplotypes in which the prior will have lower impact i.e. those with the largest differences between transmission and non-transmission counts. If their counts are very different, the prior knowledge has little effect and haplotypes are classified as low or high risk as 2G does. We show a substantial gain in power achieved by this approach, in both simulation and real data sets.
Year
DOI
Venue
2013
10.1142/S021972001250014X
JOURNAL OF BIOINFORMATICS AND COMPUTATIONAL BIOLOGY
Keywords
Field
DocType
Transmission/disequilibrium association methods,haplotype tree,group-based multimarker transmission/disequilibrium tests
Transmission (mechanics),Biology,Disequilibrium,Haplotype,Transmission disequilibrium test,Bioinformatics
Journal
Volume
Issue
ISSN
11
2
0219-7200
Citations 
PageRank 
References 
2
0.42
8
Authors
6
Name
Order
Citations
PageRank
María M Abad-Grau1245.78
Nuria Medina-Medina27319.18
Serafín Moral31218145.79
Rosana Montes-Soldado482.90
Sergio Torres-Sánchez562.87
Fuencisla Matesanz631.17