Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

Abstract

Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low‐ and middle‐income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next‐generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.

Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction

“…This article also addresses how information about genes is organized in OMIM. In a paper titled “Using OMIM in Low‐ and Middle‐income Countries,” Sobreira et al (2021) write about the critical importance of free access to OMIM in resource‐limited countries. OMIM's literature‐based descriptions are used for differential diagnosis, teaching, and variant interpretation throughout the world but are essential where journal subscriptions and fee‐based tools are unavailable.…”