AJHG

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG SC: What motivated you to start working on this project? AM: This project grew out of synergy with a few of our existing collaborations and the confluence of those lines of research. We have been working with Haky Im over the past few years on application of... Read More

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG SC: What motivated you to start working on this project?s SR: The seeds of this project were actually planted in 2009 when I gave a seminar at St. Jude Children’s Research Hospital and learned about work they were doing on differential relapse rates for children with acute... 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