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General
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Introduction
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Mapping by Admixture Linkage Disequilibrium
(MALD) is an economical and powerful approach
for the identification of genomic regions harboring
disease susceptibility genes in recently
admixed populations.
The MALD method screens through the
genome of either affected or both affected and
healthy admixed individuals, looking for chromosomal
segments with an unusually high representation of the
high-risk ancestry population for the disease.
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EMI
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We developed an information
theory based measure, called EMI (expected mutual
information), that computes the impact of
a set of markers on the ability to infer ancestry
at each chromosomal location. Using
a simple and effective algorithm for the selection
of markers, we constructed panels that strive to maximize the EMI
score. We demonstrate via well established simulation tools
that our panels provide considerably more power and accuracy for inferring
disease gene loci via the MALD method in
comparison to previous methods.
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Inference
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The approach used for panel
construction also applies to the second phase of MALD
where ancestry is inferred.
This second step has several implementations that
employ a Markov chain model which assigns the
most probable ancestry for each location given
the model parameters and marker data. Based on our model assumptions, the posterior probability
of ancestry given the observed markers can be efficiently computed as well.
We present a novel framework for the inference of ancestry at each chromosomal location.
The uniqueness of our method stems from the ability to incorporate complex probability models that account for linkage-disequilibrium in the ancestral populations.
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Literature
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Sivan Bercovici, Dan Geiger, Liran Shlush, Karl Skorecki and Alan Templeton.
"Panel Construction for Mapping in Admixed Populations via Expected Mutual Information". Genome Research 18, 661-667, and in the proceedings of the 12th Annual International Conference on Research in Computational Molecular Biology (RECOMB), 2008.
Sivan Bercovici and Dan Geiger.
"Inferring Ancestries Efficiently in Admixed Populations with Linkage Disequilibrium". Journal of Computational Biology 16, 2009.
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Related Work
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Smith et. al. "A high-density admixture map for disease gene discovery in african americans."
The American Journal of Human Genetics,
74(5):1001-1013, May 2004.
Patterson et. al. "Methods for high-density admixture mapping of disease genes."
The American Journal of Human Genetics,
74(5):979-1000, May 2004.
Tian et. al. "A genomewide single-nucleotide-polymorphism
panel with high ancestry information for
african american admixture mapping." The
American Journal of Human Genetics,
(79):640-649, 2006.
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Panels
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Description
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We provide three sets of panels usable for MALD on the African-American population.
The first two panels are based on the HapMap CEU/YRI population, version B35R21. The
third panel is based on earlier work by Tian et. al (see literture section).
A movie illustrating the construction of a panel for chromosome 1 using the EMI measure.
The horizontal line indicates the maximal EMI score possible under the assumed admixture-model
for African-Americans (see paper).
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African-American 2K
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We used
the EMI measure together with a greedy algorithm to construct a screening panel of markers
at a density that is comparable with 2000 SNPs genomewide.
Download panel: 2K Panel
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African-American 4K
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We used
the EMI measure together with a greedy algorithm to construct a theoretically
powerful panel of markers at a density that is comparable with 4000 SNPs genomewide.
Download panel: 4K Panel
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African-American (2K Enriched)
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Tian et. al. (see literature section) provided a panel of 2000 markers for African-Americans.
Part of these markers did not pass the Illumina customized GoldenGate genotyping assay validation process.
We have enriched the validated portion of the original panel with 415 additional markers so as to produce
a full panel of 2024 validated markers. The following file contains the resulting panel.
Download panel: 2K Enriched panel
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