Article
Characterizing genetic variants for clinical action.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2014
Ramos Erin M, Din-Lovinescu Corina, Berg Jonathan S, Brooks Lisa D, Duncanson Audrey, Dunn Michael, Good Peter, Hubbard Tim J P, Jarvik Gail P, O'Donnell Christopher, Sherry Stephen T, Aronson Naomi, Biesecker Leslie G, Blumberg Bruce, Calonge Ned, Colhoun Helen M, Epstein Robert S, Flicek Paul, Gordon Erynn S, Green Eric D, Green Robert C, Hurles Matthew, Kawamoto Kensaku, Knaus William, Ledbetter David H, Levy Howard P, Lyon Elaine, Maglott Donna, McLeod Howard L, Rahman Nazneen, Randhawa Gurvaneet, Wicklund Catherine, Manolio Teri A, Chisholm Rex L, Williams Marc S
Abstract excerpt
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients. However, few variants have been integrated into routine clinical practice. The reasons for this are several, but two of the most...
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