DisVar: an R library for identifying variants associated with diseases using large-scale personal genetic information.

ABSTRACT:

Background

Genetic variants may potentially play a contributing factor in the development of diseases. Several genetic disease databases are used in medical research and diagnosis but the web applications used to search these databases for disease-associated variants have limitations. The application may not be able to search for large-scale genetic variants, the results of searches may be difficult to interpret and variants mapped from the latest reference genome (GRCH38/hg38) may not be supported.

Methods

In this study, we developed a novel R library called "DisVar" to identify disease-associated genetic variants in large-scale individual genomic data. This R library is compatible with variants from the latest reference genome version. DisVar uses five databases of disease

SUBMITTER: Chanasongkhram K 

PROVIDER: S-EPMC10542659 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature