Whole exome sequencing

Whole exome sequencing is a powerful method that entails capturing and sequencing the exonic regions of the genome. This approach offers a cost-effective means to uncover genetic variations linked to various diseases or traits. Variant calling, a pivotal stage in whole exome analysis, encompasses comparing the sequenced exome with a reference genome to pinpoint variances, including single nucleotide polymorphisms (SNPs) or small insertions/deletions (indels). These identified variations are subsequently annotated to assess their potential implications on gene function or their correlation with diseases. Check out our complete exome panel, which includes mitochondrial genes. Get better genetic insights with our advanced sequencing.