Rare independent mutations in renal salt handling genes contribute to blood pressure variation

By W. Ji, Jia Nee Foo, Brian J. O'Roak, Hongyu Zhao, Martin G. Larson, D. Simon, C. Newton‐Cheh, Matthew W. State, Daniel Levy, R. Lifton. Nature Genetics, 2008

846 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Endocrinology, Diabetes and Metabolism, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/ac2058bb6f45353154212e9361bfefc6db47ec43

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Citations in the corpus

Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics (2011, background): “…some genes contain both common and rare variants associated with the trait [e.g., for lipid phenotypes (Cohen et al. 2005; Kotowski et al. 2006; Romeo et al. 2007), blood pressure ( Ji et al. 2008), and type 1 diabetes], although the generality of these results will be resolved with empirical data.”
Searching for missing heritability: Designing rare variant association studies (2014, background): “1% of the phenotypic variance in risk of type 2 diabetes (18, 21) (SI Appendix, Section 13.”
Association Mapping in Plant Genomes (2012, background): “The population sample effect is evident in maize (Zea mays) where LD decays within 1 kb in landraces, approximately doubles (~ 2kb) in diverse inbred lines and can extend up to several hundred kb in commercial elite inbred lines (Jung et al., 2004). Tenaillon et al. (2001) investigated sequence dive”
Characterising and Predicting Haploinsufficiency in the Human Genome (2010, background): “Despite the breadth of the phenotype implicit within conservation-based predictions, this class of algorithms has been demonstrated many times to be of appreciable utility [19,23].”
A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic (2009, background): “Exonic variants are grouped for each ENCODE region, to mimic a disease-resequencing study like the ones reported in human resequencing studies [5,7,16]; as a result, 5 groups of 2–72 polymorphic variants are obtained (see Table 2).”
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing (2009, methodology): “Substitutions at positions that are completely conserved from invertebrates to humans are highly likely to disrupt normal protein function (8), and we ranked the novel missense variants by conservation scores to identify the most likely functional mutations using the phyloP conservation score (Table”