SPECIAL ARTICLE Human Mutation OFFICIAL JOURNAL Describing Structural Changes by Extending HGVS Sequence Variation Nomenclature www.hgvs.org
- Publication date
- Publisher
Abstract
ABSTRACT: New technologies allow rapid discovery of novel sequence variants among which those involving complex structural rearrangements. The description of such complex variants challenges the existing standard sequence variation nomenclature of the Human Genome Variation Society (HGVS