Autor: Paul W. Hook, Alyson B. Barnes

We often describe the functional effects of genetic variants using terms such as “loss of function” or “gain of function.” These terms have an origin in Muller’s morphs, a classification system published almost a hundred years ago. At that time, the st…

Through paleogenomics, the study of ancient DNA (aDNA), scientists have been able to construct chronologies of human evolution, detailing interactions between Homo sapiens, other species, and past environments. Paleogenomics differs from modern genomic…

Rare diseases affect more than 5% of the population in the United States. Classically, rare diseases are diagnosed through a phenotype-first approach in which individuals with distinct clinical features undergo genetic testing to identify the underlyin…