Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation

• DOI: 10.2196/19040
• Publication Date: 2020-10-09T14:00:42Z
• Authors: Alejandro Mendoza...; Adrián Muñoz-Barrera; Luis Alberto Rubi...; Itahisa Marcelino...; Almudena Corrales; Antonio Iñigo-Campos; Ariel Callero; Eva Perez-Rodriguez; Jose Carlos Garci...; Rafaela González-...; Jose Miguel Loren...; Carlos Flores
• Keywords: Hereditary Angioedema; Medical genetics; Biorepository

Background Hereditary angioedema is a rare genetic condition caused by C1 esterase inhibitor deficiency, dysfunction, or kinin cascade dysregulation, leading to an increased bradykinin plasma concentration. poorly recognized clinical entity and very often misdiagnosed as histaminergic angioedema. Despite its nature, first-line screening not integrated in routine diagnosis. Consequently, delay the diagnosis, inaccurate incomplete diagnosis treatment of hereditary are common. Objective In agreement with recent recommendations from International Consensus on Use Genetics Management Angioedema, facilitate adapt it paradigm precision medicine next-generation sequencing–based tests, we aimed develop annotation tool, termed Angioedema Database Annotation (HADA). Methods HADA built top database known variants affecting function, including precomputed pathogenic assessment each variant ranked classification according current guidelines American College Medical Genomics. Results provided freely accessible, user-friendly web-based interface versatility for entry information. The underlying can also be incorporated into automated command-line stand-alone tools. Conclusions achieve rapid detection function different types, further integrates useful information reduce odyssey improve delay.