Next-Generation Bioinformatics Approaches for Rare Variant Analysis

Abstract

Rare variants play a crucial role in the genetic underpinnings of many diseases, yet their identification and interpretation remain challenging due to their low frequency in populations. Next-generation sequencing (NGS) technologies have revolutionized genetic research by enabling the detection of rare variants across the genome at unprecedented depths. Bioinformatics approaches are essential for analyzing the vast amounts of data generated by NGS platforms to identify, annotate, and interpret rare genetic variants. This article reviews the latest bioinformatics tools and methodologies for rare variant analysis, discusses their applications in human genetics and disease research, and explores the challenges and future directions in this field.