Trainee

Written by Nascent Transcript writer Brooke Wolford November 2018  What scientific themes did you identify at the ASHG 2018 Annual Meeting? You may remember several themes, including the need for genetics research in diverse populations, the power of large cohorts like the UK Biobank, and the applications of polygenic risk scores (PRS). A PRS, sometimes... Read More

Trainee Author: Julie Craft Van De Weghe, PhD Senior Postdoc Research Fellow Department of Pediatrics, University of Washington (Photo courtesy Van De Weghe) Van De Weghe JC, Rusterholz TDS, Latour B, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. AJHG. 2017 Jun... Read More

Trainee Author: Ariel F. Martinez, PhD, MB (ASCP) Biologist National Human Genome Research Institute, National Institutes of Health (Photo courtesy Martinez) Martinez AF, et al. An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility. Biological Psychiatry. 2016 Dec 15;80(12):943-954 This is the first study to show functional evidence as to how common non-coding... Read More

Attending a scientific meeting without your colleagues? How to navigate ASHG 2018 or any other conference alone, and feel confident and comfortable doing so. Read More

Trainee Author: Janson White, PhD Senior Fellow Department of Pediatrics, University of Washington (Photo courtesy White) White JJ, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. AJHG. 2018 Jan 4;102(1):27-43. This study was selected for the Trainee Paper Spotlight because it uses extensive genetic and genomic studies to identify new pathogenic... Read More