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On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants

Article Abstract:

The significance of using several general control samples while performing the genome-wide association (GWA) studies is discussed. The new approach is found to be extremely effective, as it helps in reducing the false-positive rate, while explaining the causal variants.

Author: Trucco, Massimo, Roeder, Kathryn, Ying Lu, Devlin, Bernie, Schreiber, Stefan, Luca, Diana, Ringquist, Steven, Klei, Lambertus, Lee, Anne B., Gieger, Christian, Wichmann, H. -Erich, Krawczak, Michael, Styche, Alexis
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Observations, Genetic research, Genetic variation

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Contribution of SHANK3 mutations to autism spectrum disorder

Article Abstract:

The article examines the quantitative contribution of SHANK3 mutations and variations to autism spectrum disorder through DNA sequencing. SHANK3-scaffolding protein is useful for testing clinical diagnostic.

Author: Szatmari, Peter, Zwaigenbaum, Lonnie, Scherer, Stephen W., Vincent, John, Roberts, Wendy, Marshall, Christian R., Fernandez, Bridget, Moessner, Rainald, Sutcliffe, James S., Skaug, Jennifer, Pinto, Dalila
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Mutation (Biology), Mutation, Protein folding

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Structural variation in chromosomes in autism spectrum disorder

Article Abstract:

Several genome-wide studies are conducted to discuss the structural variations of chromosomes observed in individuals with autism spectrum disorder (ASD).

Author: Vincent, John B., Szatmari, Peter, Zwaigenbaum, Lonnie, Scherer, Stephen W., Thompson, Ann, Chitayat, David, Schreiber, Stefan, Yan Ren, Roberts, Wendy, Feuk, Lars, Marshall, Christian R., Fernandez, Bridget, Moessner, Rainald, Skaug, Jennifer, Pinto, Dalila, Noor, Abdul, Lionel, Anath C., Shago, Mary, Thiruvahindrapduram, Bhooma, Fiebig, Andreas, Friedman, Jan, Ketelaars, Cees E.J., Vos, Yvonne J., Ficicioglu, Can, Kirkpatrick, Susan, Nicolson, Rob, Sloman, Leon, Summers, Anne, Gibbons, Clare A., Teebi, Ahmad, Weksberg, Rosanna, Vardy, Cathy, Crosbie, Vicki, Luscombe, Sandra, Baatjes, Rebecca
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008

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Subjects list: Usage, Genomics, Research, Genetic aspects, Autism
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