Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

Article Abstract:

Rare single-nucleotide polymorphisms (SNPs) are evaluated in case-control association studies to identify causal SNPs for common diseases. It is suggested that including rare SNPs in genotyping platforms will advance identification of causal SNPs as sample sizes increases.

Author: Gorlov, Ivan P., Amos, Christopher I., Spitz, Margaret R., Sunyaev, Shamil R., Gorlova, Olga Y.
Genotype, Genotypes, Allelomorphism, Alleles, Single nucleotide polymorphisms

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Medical sequencing at the extremes of human body mass

Article Abstract:

The coding exons and splice junctions of 58 genes in 379 obese and 378 lean individuals is resequenced. Data suggests that multiple rare alleles contribute to obesity in the population.

Author: Cohen, Jonathan, Ruppin, Eytan, Sunyaev, Shamil, Martin, Joel, Pennacchio, Len A., Vaisse, Christian, Sharan, Roded, Ahituv, Nadav, Kavaslar, Niharn, Schackwitz, Wendy, Ustaszewska, Anna, Hebert, Sybil, Doelle, Heather, Ersoy, Baran, Kryukov, Gregory, Schmidt, Steffen, Yosef, Nir, Dent, Robert, McPherson, Ruth
United States, Genetic aspects, Obesity, Exon (Molecular genetics), Exons (Molecular genetics), Genetic code, Report

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Subjects list: Research
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