Article
Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus.
Cancer research - 1 Apr 2016
Camp Nicola J, Lin Wei-Yu, Bigelow Alex, Burghel George J, Mosbruger Timothy L, Parry Marina A, Waller Rosalie G, Rigas Sushilaben H, Tai Pei-Yi, Berrett Kristofer, Rajamanickam Venkatesh, Cosby Rachel, Brock Ian W, Jones Brandt, Connley Dan, Sargent Robert, Wang Guoying, Factor Rachel E, Bernard Philip S, Cannon-Albright Lisa, Knight Stacey, Abo Ryan, Werner Theresa L, Reed Malcolm W R, Gertz Jason, Cox Angela
Abstract excerpt
The findings from genome-wide association studies hold enormous potential for novel insight into disease mechanisms. A major challenge in the field is to map these low-risk association signals to their underlying functional sequence variants (FSV). Simple sequence study designs are insufficient, as the vast numbers of statistically comparable variants and a limited knowledge of noncoding regulatory elements...
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