AJHG

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG SC: What prompted you to start working on this project? CG: Everyone on the team is involved in studying the ethical, legal, and social implications (ELSI) of direct-to-consumer genetic testing, and we’ve been paying attention to stories in the media about individuals who have made surprising family... Read More

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG SC: What prompted you to start working on this project? AB: This project was truly a collaboration from conception to completion. First, disease-associated genetic loci are often in non-coding regions of the genome, and thus do not immediately point to a disease gene or mechanism of action.... Read More

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG What prompted you to start working on this project? SS: For a few years now, I have been thinking about Biobank-scale methods that can allow us to learn about aspects of the genetic architecture (e.g. heritability) of complex traits from millions of genomes. A major challenge in... Read More

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