RarePedia: A tool that integrates scattered information about rare-damaging variants

Abstract

Finding causal factors of various diseases, whether they be environmental factors, stress, aging, and etc. has been the focus of many researchers around the globe. As advancements in science and technology were made, many disease-related genes and mechanisms have been discovered. With the development of DNA sequencing techniques, the sequences of disease-associated genes and specific disease-related genetic variants are being revealed. However, variants that occur at very low frequencies are often ignored, seemingly because there is little known information about these rare variants, which in turn makes rare variant analyses difficult without increasing the sample size.

RarePedia was designed to make a unified collection of information about rare variants. Furthermore, it focuses on deleterious variants that are expected to be related to diseases. RarePedia is another way to use Next Generation Sequencing(NGS) data, and a helpful tool to see organized information previously scattered across many sources.

The ultimate goal of RarePedia is the accumulation of information through additional updates, whenever there is new information about rare and deleterious variants. It can be a way to organize information about rare and deleterious variants that have not been organized systematically.