Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG SC: What motivated you to start working on this project? AS: I’ve been interested in wacky bits of the genome for a long time. I actually remember way back in 2004 when as a postdoc with Evan Eichler we first started getting data from early array CGH... Read More
Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG SC: What prompted you to start working on this project? MN: I think that de novo mutations (DNMs) are completely fascinating: they can be used to make historical inferences about how our species has evolved over time and they also serve as a lens into how humans are changing... Read More
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