AJHG

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG What prompted you to start working on this project? A critical challenge in genomic medicine is developing insight into the underlying mechanisms that are responsible for association signals detected by genome-wide association studies (GWAS). One of the primary sources of motivation for this project was to harness... Read More

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Eugene (@DrGeneUK) to discuss his paper “Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders” What prompted you to start working on this project?... Read More

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month, we check in with Adam de Smith to discuss his paper, “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia”. AJHG: What caused you to start working on this project?  AdS:... Read More

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Cristen Willer and Tanmoy Roychowdhury to discuss their paper, Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm. What prompted you to start working on this project? CW: The... Read More

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