Posted By: Sarah Ratzel, PhD, Science Editor, 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 Aaron Quinlan to discuss his paper, “De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families”. AJHG:... Read More
By ASHG President Anthony Wynshaw-Boris, MD, PhD The COVID-19 pandemic has been a jarring challenge to public health and economies worldwide. Even as we all navigate the crisis and its effect on personal health, professional lives and larger national strategies, I am heartened by the application of science in the public health response to the... Read More
In 2015 and 2016, ASHG submitted comments to the U.S. Food and Drug Administration (FDA) on two related proposed regulations for Next Generation Sequencing (NGS)-based in vitro diagnostics. Appreciative of being engaged in the process, ASHG submitted comments to further inform and clarify the issue. Related: Comments on “Use of Standards in FDA Regulatory Oversight... Read More