Careers & Learning

This month on Inside AJHG: Janet Kelso, author of the recent high-profile paper “The Contribution of Neanderthals to Phenotypic Variation in Modern Humans." Read More

“Learn from yesterday, work for today, plan for tomorrow, dream for the day after tomorrow…and most of your dreams will come true.” Supriyo De, MD/PhD, is a Staff Scientist at the National Institute on Aging (NIA), part of the National Institutes of Health (NIH). He is a leading bioinformatics expert focusing on the integration of... Read More

Trainee Author: Johanna Känsäkoski PhD student University of Helsinki (Photo courtesy Känsäkoski) Johanna Känsäkoski et al. Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. Scientific Reports (2016); 6: 32819. This paper highlights the use of sequencing technology to identify causative mutations in patients with a normal androgen receptor... Read More

Trainee Author: Lise Barbé, PhD Postdoctoral Scholar Gladstone Institutes (Photo courtesy Dr. Barbé) Lise Barbé ́et al. CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy. The American Journal of Human Genetics (2017); 100(3);488-505. This paper sheds light on the genetic mechanisms underlying myotonic dystrophy. This disease is caused by tri-nucleotide repeat... Read More

This month on Inside AJHG: Jay Shendure, Greg Findlay & Molly Gasperini on leveraging CRISPR to look for distal regulatory elements affecting gene expression. Read More