Congratulations to our winners and thank you to all who participated. Happy DNA Day! 2022 Question The “Father of Genetics,” Gregor Mendel, was born 200 years ago in northern Moravia (now Czechia). His experiments with pea plants led to observations and conclusions that became fundamental principles of genetic inheritance. These principles include: 1) Each organism... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? NU: Despite being first described over 100 years ago, mutations underlying hepatic hemangiomas (HHs) had not been identified. Mutations associated with cutaneous venous malformations (CVMs) have been found, but a significant proportion still have no genetic explanation. We also found it... Read More
On April 4, 2022, the National Academies of Sciences, Engineering, and Medicine (NASEM)’s Committee on Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research (“the Committee”) held a virtual public workshop as part of its work to prepare a report on this topic, which will be published in early 2023. ASHG President... 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
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