Fast and cost-effective whole-genome analysis

Fast and Cost-Saving Solutions for Streamlined Whole-Genome Variant Calling and Discovery of Associations via Aggregated Rare Variants.

Our client’s requirement

Our client collaborated with Excelra to help deploy a highly efficient variant calling pipeline. The objective was to process substantial batches of 50X samples swiftly while delving into aggregated rare variants to unearth significant associations within the genome.

Our approach

Our comprehensive variant analysis pipeline incorporated meticulous read alignment and comprehensive variant calling encompassing SNVs, Indels, SVs, and CNs. Through rigorous joint genotyping and stringent quality control measures, we ensure data accuracy and reliability. Our Hg38 HLA and ALT-aware pipeline adhere to the best practices recommended by GATK, guaranteeing robust genomic analysis for accurate insights.