Genomics and Rare Diseases
This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants.
Papers listed on taxonomy pages are the top few works per node from the OpenAlex snapshot. That list is not exhaustive and is not an endorsement. The topic map and the journal registry remain separate: there is still no authoritative topic-to-venue or topic-to-organization edge. Search is a lexical lookup, not a claim that a venue publishes a topic.