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1 News 92 Publications 17 Members

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response.

Harismendy, Olivier Notani, Dimple Song, Xiaoyuan Rahim, Nazli G Tanasa, Bogdan Heintzman, Nathaniel Ren, Bing Fu, Xiang-Dong Topol, Eric J Rosenfeld, Michael G ...

Published in Nature

Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) in the 9p21 gene desert associated with coronary artery disease (CAD) and type 2 diabetes. Despite evidence for a role of the associated interval in neighbouring gene regulation, the biological underpinnings of these genetic associations with CAD or type 2 diabet...

Experimental selection of hypoxia-tolerant Drosophila melanogaster.

Zhou, Dan Udpa, Nitin Gersten, Merril Visk, DeeAnn W Bashir, Ali Xue, Jin Frazer, Kelly A Posakony, James W Subramaniam, Shankar Bafna, Vineet ...

Published in Proceedings of the National Academy of Sciences of the United States of America

Through long-term laboratory selection (over 200 generations), we have generated Drosophila melanogaster populations that tolerate severe, normally lethal, levels of hypoxia. Because of initial experiments suspecting genetic mechanisms underlying this adaptation, we compared the genomes of the hypoxia-selected flies with those of controls using dee...

A covering method for detecting genetic associations between rare variants and common phenotypes. PDF available through Get Fulltext Research

Bhatia, Gaurav Bansal, Vikas Harismendy, Olivier Schork, Nicholas J Topol, Eric J Frazer, Kelly Bafna, Vineet

Published in PLoS computational biology

Genome wide association (GWA) studies, which test for association between common genetic markers and a disease phenotype, have shown varying degrees of success. While many factors could potentially confound GWA studies, we focus on the possibility that multiple, rare variants (RVs) may act in concert to influence disease etiology. Here, we describe...

Elucidating the role of 8q24 in colorectal cancer.

Harismendy, Olivier Frazer, Kelly A

Published in Nature genetics

Genomewide SNP variation reveals relationships among landraces and modern varieties of rice.

Kl, Mcnally Kl, Childs R, Bohnert Rm, Davidson K, Zhao Vj, Ulat G, Zeller Rm, Clark Dr, Hoen Te, Bureau ...

Published in Proceedings of the National Academy of Sciences

Rice, the primary source of dietary calories for half of humanity, is the first crop plant for which a high-quality reference genome sequence from a single variety was produced. We used resequencing microarrays to interrogate 100 Mb of the unique fraction of the reference genome for 20 diverse varieties and landraces that capture the impressive gen...

Genetic determinants of phenotypic diversity in humans PDF available through Get Fulltext Research

Rahim, Nazli G Harismendy, Olivier Topol, Eric J Frazer, Kelly A

Published in Genome Biology

New technologies for rapidly assaying DNA sequences have revealed that the degree and nature of human genetic variation is far more complex then previously realized. These same technologies have also resulted in the identification of common genetic variants associated with more than 30 human diseases and traits.

Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.

Kooner, Jaspal S Chambers, John C Aguilar-Salinas, Carlos A Hinds, David A Hyde, Craig L Warnes, Gregory R Gómez Pérez, Francisco J Frazer, Kelly A Elliott, Paul Scott, James ...

Published in Nature genetics

We tested over 267,000 SNPs in 1,005 Northern Europeans and 248,000 in 1,006 Indian Asians for association with triglycerides and HDL cholesterol, with replication in 10,536 subjects. We found association of a nonsynonymous SNP (rs3812316, G771C, Gln241His) in MLXIPL with plasma triglyceride levels (combined P = 1.4 x 10(-10)). MLXIPL coordinates t...

A genome-wide approach to identifying novel-imprinted genes

Pollard, Ks Serre, D Wang, X Tao, H Grundberg, E Hudson, Tj Clark, Ag Kelly A. Frazer

Published in Annual Review of Genomics and Human Genetics

Faithful expression of the human 5q31 cytokine cluster in transgenic mice.

Lacy, Da Wang, Ze Symula, Dj Mcarthur, Cj Rubin, Em Kelly A. Frazer Locksley, Rm

Published in The Journal of Immunology

Interleukins -4, -5, and -13, cardinal cytokines produced by Th2 cells, are coordinately expressed and clustered in 150-kb syntenic regions on mouse chromosome 11 and human chromosome 5q31. We analyzed two sets of human yeast artificial chromosome transgenic mice that contained the 5q31 cytokines to assess whether conserved sequences required for t...

VISTA : visualizing global DNA sequence alignments of arbitrary length.

Mayor, C Brudno, M Schwartz, Jr Poliakov, A Rubin, Em Kelly A. Frazer Pachter, Ls Dubchak, I

Published in Bioinformatics

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