WES Analysis
Whole Exome Sequencing (WES) Analysis
-Quality control and preprocessing of raw sequencing data
-Accurate read alignment to the reference genome
-Variant calling and filtering for SNPs and Indels with quality metrics
-Functional annotation using curated clinical and population databases
-ACMG guideline-based classification for pathogenicity assessment
-Phenotype-driven gene prioritization for clinical and research use
-Comprehensive reporting with structured variant interpretation