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 deploy a highly efficient variant calling pipeline. The objective was to process substantial batches of 50X whole-genome sequencing samples swiftly while analyzing aggregated rare variants to uncover significant genomic associations.
Our approach
Our comprehensive variant analysis pipeline incorporated meticulous read alignment and advanced variant calling across SNVs, Indels, SVs, and CNs. Through rigorous joint genotyping and stringent quality control measures, we ensured accuracy and reliability.
Excelra’s Hg38 HLA and ALT-aware pipeline, aligned with GATK best practices, guarantees robust genomic data analysis for accurate insights. By integrating scientific informatics and bioinformatics solutions, the pipeline delivered a fast, cost-effective, and scalable approach for large-scale whole-genome variant discovery.
