Article
Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms.
Genetics - 1 Sept 2012
Chiang Charleston W K, Liu Ching-Ti, Lettre Guillaume, Lange Leslie A, Jorgensen Neal W, Keating Brendan J, Vedantam Sailaja, Nock Nora L, Franceschini Nora, Reiner Alex P, Demerath Ellen W, Boerwinkle Eric, Rotter Jerome I, Wilson James G, North Kari E, Papanicolaou George J, Cupples L Adrienne, Murabito Joanne M, Hirschhorn Joel N
Abstract excerpt
Ultraconserved elements in the human genome likely harbor important biological functions as they are dosage sensitive and are able to direct tissue-specific expression. Because they are under purifying selection, variants in these elements may have a lower frequency in the population but a higher likelihood of association with complex traits. We tested a set of highly constrained SNPs (hcSNPs) distributed...
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