AJHG

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

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 Laïla El Khattabi and Alexander Hoischen to discuss their complementary papers Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping and Optical genome mapping enables constitutional... 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 Josh Motelow to discuss his paper, “Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals”. AJHG: What caused you to start working on this project? JM:... Read More