Ultraconserved elements in the human genome: Association and transmission analyses of highly constrained SNPs
نویسندگان
چکیده
Ultraconserved elements in the human genome: Association and transmission analyses of highly constrained SNPs Charleston W. K. Chiang, Ching-Ti Liu, Guillaume Lettre, Leslie A. Lange, Neal W. Jorgensen, Brendan J. Keating, Sailaja Vedantam, Nora L. Nock, Nora Franceschini, Alex P. Reiner, Ellen W. Demerath, Eric Boerwinkle, Jerome I. Rotter, James G. Wilson, Kari E. North, George J. Papanicolaou, L. Adrienne Cupples, GIANT consortium, Joanne M. Murabito, Joel N. Hirschhorn
منابع مشابه
Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms.
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) ...
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