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 li...

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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Genetics Society of America 2012
Soggetti:
Investigations
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3430540/
https://ncbi.nlm.nih.gov/pubmed/22714408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.112.141945
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