Trainee Paper Spotlight

ASHG: What was the process for finding your position? What was the interview process like? Jordan Hughey: Putting everything being virtual due to the pandemic aside, I wouldn’t say my job search and interview process was different than anyone else’s experience.  The whole process is equally exciting as it is stressful.  You constantly search for... Read More

Trainee Author: Theodore G. Drivas, MD, PhD Research Fellow, Children’s Hospital of Philadelphia Clinical Associate, The Perelman School of Medicine at the University of Pennsylvania (Photo courtesy of Theodore G. Drivas) Drivas TG, et al. Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis. 2021 American Journal of... Read More

Trainee Author: Ozan Dikilitas, M.D. Senior Research Fellow Department of Cardiovascular Medicine Mayo Clinic Rochester, MN Dikilitas O, et al. Predictive utility of polygenic risk scores for coronary heart disease in three major racial and ethnic groups. 2020 The American Journal of Human Genetics 106(5):707-716. Polygenic risk scores (PRSs) for coronary heart disease are primarily derived from... Read More

Author: Marcos Araújo Castro e Silva, M.Sc., B.Sc Ph.D. Candidate Department of Genetics and Evolutionary Biology Institute of Biosciences University of São Paulo (Photo courtesy Castro e Silva) Castro e Silva MA, et al. Genomic insight into the origins and dispersal of the Brazilian coastal natives. 2019 PNAS. Feb 4;117(5):2372-2377 The indigenous populations of the... Read More

Author: Iris Nira Smith, PhD Postdoctoral Fellow Genomic Medicine Institute Lerner Research Institute Cleveland Clinic Smith IN, et al. Conformational dynamics and allosteric regulation landscapes of germline PTEN mutations associated with autism compared to those associated with cancer. 2019 American Journal of Human Genetics. May 2;104(5):861-878\ Why do mutations in the same gene sometimes lead... Read More