PhenGenVar: A User-Friendly Genetic Variant Detection and Visualization Tool for Precision Medicine.

ABSTRACT: Precision medicine has been revolutionized by the advent of high-throughput next-generation sequencing (NGS) technology and development of various bioinformatic analysis tools for large-scale NGS big data. At the population level, biomedical studies have identified human diseases and phenotype-associated genetic variations using NGS technology, such as whole-genome sequencing, exome sequencing, and gene panel sequencing. Furthermore, patients' genetic variations related to a specific phenotype can also be identified by analyzing their genomic information. These breakthroughs paved the way for the clinical diagnosis and precise treatment of patients' diseases. Although many bioinformatics tools have been developed to analyze the genetic variations from the individual patient's NGS data, it

SUBMITTER: Shin J 

PROVIDER: S-EPMC9224645 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature