Browsing HMS Scholarly Articles by Keyword "exome"

Now showing items 1-3 of 3

    • Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection 

      Lenz, Tobias L.; Spirin, Victor; Jordan, Daniel M.; Sunyaev, Shamil R. (Oxford University Press, 2016)
      Deleterious mutations are expected to evolve under negative selection and are usually purged from the population. However, deleterious alleles segregate in the human population and some disease-associated variants are ...

    • Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer 

      Winham, S. J.; Pirie, A.; Chen, Y. A.; Larson, M. C.; Fogarty, Z. C.; Earp, M. A.; Anton-Culver, H.; Bandera, E. V.; Cramer, Daniel William; Doherty, J. A.; Goodman, M. T.; Gronwald, J.; Karlan, B. Y.; Kjaer, S. K.; Levine, D. A.; Menon, U.; Ness, R. B.; Pearce, C. L.; Pejovic, T.; Rossing, M. A.; Wentzensen, N.; Bean, Y. T.; Bisogna, M.; Brinton, L. A.; Carney, M. E.; Cunningham, J. M.; Cybulski, C.; deFazio, A.; Dicks, E. M.; Edwards, R. P.; Gayther, S. A.; Gentry-Maharaj, A.; Gore, M.; Iversen, E. S.; Jensen, A.; Johnatty, S. E.; Lester, J.; Lin, H.-Y.; Lissowska, J.; Lubinski, J.; Menkiszak, J.; Modugno, F.; Moysich, K. B.; Orlow, I.; Pike, M. C.; Ramus, S. J.; Song, H.; Terry, Kathryn Lynne; Thompson, P. J.; Tyrer, J. P.; van den Berg, D. J.; Vierkant, R. A.; Vitonis, A. F.; Walsh, C.; Wilkens, L. R.; Wu, A. H.; Yang, H.; Ziogas, A.; Berchuck, A.; Schildkraut, J. M.; Permuth-Wey, J.; Phelan, C. M.; Pharoah, P. D. P.; Fridley, B. L.; Sellers, T. A.; Goode, E. L. (American Association for Cancer Research (AACR), 2016)
      While numerous susceptibility loci for epithelial ovarian cancer (EOC) have been identified, few associations have been reported with overall survival. In the absence of common prognostic genetic markers, we hypothesize ...

    • Toward clinical genomics in everyday medicine: perspectives and recommendations 

      Delaney, Susan K.; Hultner, Michael L.; Jacob, Howard J.; Ledbetter, David H.; McCarthy, Jeanette J.; Ball, Michael; Beckman, Kenneth B.; Belmont, John W.; Bloss, Cinnamon S.; Christman, Michael F.; Cosgrove, Andy; Damiani, Stephen A.; Danis, Timothy; Delledonne, Massimo; Dougherty, Michael J.; Dudley, Joel T.; Faucett, W. Andrew; Friedman, Jennifer R.; Haase, David H.; Hays, Tom S.; Heilsberg, Stu; Huber, Jeff; Kaminsky, Leah; Ledbetter, Nikki; Lee, Warren H.; Levin, Elissa; Libiger, Ondrej; Linderman, Michael; Love, Richard L.; Magnus, David C.; Martland, AnneMarie; McClure, Susan L.; Megill, Scott E.; Messier, Helen; Nussbaum, Robert L.; Palaniappan, Latha; Patay, Bradley A.; Popovich, Bradley W.; Quackenbush, John; Savant, Mark J.; Su, Michael M.; Terry, Sharon F.; Tucker, Steven; Wong, William T.; Green, Robert C. (Taylor & Francis, 2016)
      ABSTRACT Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only a small fraction ...