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3 results on '"Ghose, Sy"'

1. Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay

Author

Hardenbol, Paul, Bruckner, Carsten, Mackenzie, Jennifer, Belmont, John, Fuli Yu, Brundage, Tiffany, Gibbs, Richard A., Erbilgin, Ayca, Eberle, Jim, Steve Chow, Boudreau, Andrew, Falkowski, Mat, Willis, Thomas D., Jain, Maneesh, Iartchouk, Oleg, Ghose, Sy, Fitzgerald, Ron, Karlin-Neumann, George, Davis, Ronald W., Moorhead, Martin, Moore, Bridget, Xin Miao, Xiulua Lu, Mansaraev, Eugeni, Jones, Hywel B., Zhiyong Wang, Tran, Karen, Prakash, Eunice, and Pasternak, Shiran

Subjects
Genotype -- Research, Single nucleotide polymorphisms -- Research, Health
Abstract

A study was conducted which reported the development of molecular inversion probe technology with four-color, single array detection, applied to large-scale genotyping of up to 12,000 SNPs per reaction. Results of the study demonstrate the suitability of the technology for comprehensive association studies that use targeted SNPs in indirect linkage disequilibrium studies or that directly look for causative mutations.

Published
2005

2. Positive Selection of a Pre-Expansion CAG Repeat of the Human SCA2 Gene

Author

Yu, Fuli, primary, Sabeti, Pardis C, additional, Hardenbol, Paul, additional, Fu, Qing, additional, Fry, Ben, additional, Lu, Xiuhua, additional, Ghose, Sy, additional, Vega, Richard, additional, Perez, Ag, additional, Pasternak, Shiran, additional, Leal, Suzanne M, additional, Willis, Thomas D, additional, Nelson, David L, additional, Belmont, John, additional, and Gibbs, Richard A, additional

Published
2005
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3. Positive Selection of a Pre-Expansion CAG Repeat of the Human SCA2 Gene.

Author

Fuli Yu, Sabeti, Pardis C., Hardenbol, Paul, Qing Fu, Fry, Ben, Xiuhua Lu, Ghose, Sy, Vega, Richard, Perez, Ag, Pasternak, Shiran, Leal, Suzanne M., Willis, Thomas D., Nelson, David L., Belmont, John, Gibbs, Richard A., and Abecasis, Goncalo

Subjects
HUMAN chromosomes, HUMAN genetics, NATURAL selection, GENETICS, GENEALOGY
Abstract

A region of approximately one megabase of human Chromosome 12 shows extensive linkage disequilibrium in Utah residents with ancestry from northern and western Europe. This strikingly large linkage disequilibrium block was analyzed with statistical and experimental methods to determine whether natural selection could be implicated in shaping the current genome structure. Extended Haplotype Homozygosity and Relative Extended Haplotype Homozygosity analyses on this region mapped a core region of the strongest conserved haplotype to the exon 1 of the Spinocerebellar ataxia type 2 gene (SCA2). Direct DNA sequencing of this region of the SCA2 gene revealed a significant association between a pre-expanded allele [(CAG)8CAA(CAG)4CAA(CAG)8] of CAG repeats within exon 1 and the selected haplotype of the SCA2 gene. A significantly negative Tajima's D value (−2.20, p < 0.01) on this site consistently suggested selection on the CAG repeat. This region was also investigated in the three other populations, none of which showed signs of selection. These results suggest that a recent positive selection of the pre-expansion SCA2 CAG repeat has occurred in Utah residents with European ancestry. [ABSTRACT FROM AUTHOR]

Published
2005
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