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
10 years ago, I was in my college dorm room writing my senior thesis and wondering what career could possibly combine my interest in genetics, health, communication, and translation of research. Today, I am sitting in my apartment in Washington, DC as an ASHG/NHGRI Genetics and Public Policy Fellow, working remotely at the intersection of... Read More
Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG What prompted you to start working on this project? A critical challenge in genomic medicine is developing insight into the underlying mechanisms that are responsible for association signals detected by genome-wide association studies (GWAS). One of the primary sources of motivation for this project was to harness... Read More
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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 Laïla El Khattabi and Alexander Hoischen to discuss their complementary papers Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping and Optical genome mapping enables constitutional... Read More