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

Alejandro Mendoza-Alvarez Adrián Muñoz-Barrera Luis Alberto Rubio-Rodríguez Itahisa Marcelino-Rodriguez Almudena Corrales Antonio Iñigo-Campos Ariel Callero Viera Eva Perez-Rodriguez Jose Carlos Garcia-Robaina Rafaela Montelongo Jose Miguel Lorenzo-Salazar Carlos Flores

Published in: Journal of medical Internet research (2020)

HADA can achieve the rapid detection of variants affecting function for different hereditary angioedema types, and further integrates useful information to reduce the diagnosis odyssey and improve its delay.

Keyphrases

angiotensin converting enzyme
primary care
healthcare
angiotensin ii
copy number
quality improvement
health information
adverse drug
rna seq
electronic health record