REVIEW | doi:10.20944/preprints202302.0305.v1
Subject: Computer Science And Mathematics, Information Systems Keywords: genetic databases; mutation disorders; ethnic specific databases
Online: 17 February 2023 (07:59:08 CET)
The mutation databases have vital importance in detecting genetic mutation and their corresponding phenotypes. The emergence of next generation sequencing genetic technologies has accelerated this process, and the growth of genetic disease identification has created a need for quality control and documentation of mutation-related information. Ethnic-specific mutation databases offer valuable information for researchers, and the article evaluates the homogeneity and effectiveness of these databases. The aim to raise awareness of NEMDBs to healthcare professionals, the general public, and researchers studying genetic disorders. The article also recommendations to improve the effectiveness of these databases.