Careers & Learning

  Trainee Author: Raluca Nicoli, Pharm, PhD Postdoctoral Researcher National Human Genome Research Institute National Institutes of Health (Photo courtesy Nicoli) Nicoli E, et al. Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification. 2019 June 6;104(6)   This month’s Trainee Paper Spotlight article is a prime example... Read More

Trainee Author: Ajai K. Pathak Early Career Researcher Estonian Biocentre-Institute of Genomics University of Tartu (Photo courtesy Jüri Parik)   Pathak AK, et al.The Genetic Ancestry of Modern Indus Valley Populations from Northwest India. American Journal of Human Genetics. 2018 Dec 6;103(6) To fully capture the variation of the human genome it is important to... Read More

Trainee Author: Dr. Callie Kwartler Postdoctoral Fellow Milewicz Lab – University of Texas Health Science Center at Houston (Photo courtesy Kwartler) Kwartler CS, Gong L, Chen J, Wang S, Kulmacz R, Duan XY, Janda A, Huang J, Kamm KE, Stull JT, Guo D, Milewicz DM. Variants of Unknown Significance in Genes Associated with Heritable Thoracic... Read More

Trainee Author: Taylor Mighell Graduate Student Oregon Health and Science University, Portland, Oregon (Photo courtesy Mighell) Mighell, T.L., Evans-Dutson, S. and O’Roak, B.J. (2018) A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. The American Journal of Human Genetics 102, 943–955. Mighell et al (2018) present a methodology and framework for... Read More

Trainee Author: Bárbara Domingues Bitarello, PhD Postdoctoral Researcher, Department of Genetics Perelman School of Medicine, University of Pennsylvania (Photo courtesy Bitarello) Bitarello BD, et al. Signatures of long-term balancing selection in human genomes. Genome Biology and Evolution. 2018 Mar 1;10(3) In this month’s Trainee Paper Spotlight, Bitarello et al. define a simple yet powerful new... Read More