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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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