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Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies

Article Abstract:

The development and validation of experimental methods, study designs and analysis software are reported for pooling-based genomewide association (GWA) studies. The results of theoretical calculations and their experimental validation suggest that pooling-based genomewide association studies are a logical first step for determining whether major genetic associations exist in diseases with high heritability.

Author: Reiman, Eric M., Melquist, Stacey, Stephan, Dietrich A., Pearson, John V., Huentelman, Matthew J., Halperin, Rebecca F., Tembe, Waibhav D., Homer, Nils, Brun, Marcel, Szelinger, Szabolcs, Coon, Keith D., Zismann, Victoria L., Webster, Jennifer A., Beach, Thomas, Sando, Sigrid B., Aasly, Jan O.;, Heun, Reinhard, Jessen, Frank, Kolsch, Heike, Tsolaki, Magdalini, Daniilidou, Makrina, Papassotiropoulos, Andreas, Hutton, Michael L., Craig, David W.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Alzheimer's disease, DNA microarrays

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Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

Article Abstract:

A hypothesis that additional genetic loci might be involved in conferring risk of progressive supranuclear palsy (PSP) that could be identified through a pooling-based genomewide association study of >500,000 SNPs is presented. Ranking all SNPs by their probe-intensity difference between cohorts identifies candidate SNPs with large differences in alleic frequency.

Author: Melquist, Stacey, Baker, Matt, Stephan, Dietrich A., Farrer, Matthew J., Hutton, Mike, Crook, Richard, Gass, Jennifer, Cannon, Ashley, Adamson, Jennifer, Pearson, John V., Huentelman, Matthew J., Szelinger, Szabolcs, Coon, Keith D., Zismann, Victoria L., Craig, David W., Caselli, Richard J., Corneveaux, Jason, Lincoln, Sarah, Adler, Charles, Tuite, Paul, Calne, Donald B., Bigio, Eileen H., Uitti, Ryan J., Wszolek, Zbigniew K., Golbe, Lawrence I., Graff-Radford, Neill, Litvan, Irene, Dickson, Dennis W.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Progressive supranuclear palsy

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Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus

Article Abstract:

The cause of hypothalamic hamartoma (HH) pathogenesis in sporadic cases is investigated. The chromosomal abnormalities within the GLI3 locus are associated with HH pathogenesis in sporadic, nonsyndromic patients with HH and intractable epilepsy.

Author: Stephan, Dietrich A., Szelinger, Szabolcs, Craig, David W., Itty, Abraham, Panganiban, Corrie, Kruer, Michael C., Sekar, Aswin, Reiman, David, Narayanan, Vinodh, Kerrigan, John F.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Causes of, Observations, Chromosome abnormalities, Hamartoma

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Subjects list: Research, Genetic aspects, Single nucleotide polymorphisms, Report
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