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 Heather Mefford to discuss her paper, “Biallelic loss-of-function variants in NUP188 cause a recognizable syndrome characterized by neurologic, ocular and cardiac abnormalities”. 1. What caused you to start working on... Read More
Published: Friday, April 24, 2020, 12:00 p.m. U.S. Eastern Time Media Contact: Kara Flynn, 202.257.8424, press@ashg.org Contest Addressed Ancestry Tests and Cultural Heritage ROCKVILLE, MD – As part of its celebration of National DNA Day, the American Society of Human Genetics (ASHG) announced today the winners of its 2020 DNA Day Essay Contest, which encourages... 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
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 Amy Williams to discuss her paper, “Rapid, Phase-free Detection of Long Identity-by-Descent Segments Enables Effective Relationship Classification”. AJHG: What caused you to start working on this project? Amy: Our past work on... Read More
In a time of crisis, it is heartening to see all communities, including the scientific and medical communities, working together and helping one another in big ways or small. As such, ASHG remains dedicated in serving members and others within the genetics and genomics community. One of the ways we are looking to help you... Read More
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