Navigating Variant Calling for Disease-Causing Mutations: The state-of-art process

Disclaimer: This post is sponsored by Watershed Omics Bench platform. I have personally tested the platform.

Variant calling is the process of identifying and categorizing genetic variants in sequencing data. It is a critical step in the analysis of whole-genome sequencing (WGS) and whole-exome sequencing (WES) data, as it allows researchers to identify potential disease-causing mutations.

Choice of aligners

The first step in variant calling is to align the sequencing …