Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...

Disease classifications (nosologies) are used ubiquitously in academic medicine, human genetics, the health industry, and economics. Much like any library's content catalog, disease taxonomies strive ...

Over the past several years, the field of medical genetics has continued to expand and is now impacting a broad range of medical care, mainly due to rapid advances in genetic technology and ...