Paper Spotlight

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

Trainee Author: Arne De Roeck, M.Sc PhD Student, Neurodegenerative Brain Diseases Group VIB-UAntwerp Center for Molecular Neurology (Photo courtesy De Roeck) De Roeck A, et al. An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease. Acta Neuropathologica. 2018 Mar 27;135(6) This paper underscores the importance of considering non-coding variation while searching... Read More