S3 Data Management
Manage genomic analysis workflow data via BioSpark secure storage.
β‘ S3 Batch Analysis 0 Pairs
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Germline Short Variant Discovery Pipeline
Our optimized pipeline processes raw sequencing data through quality control, alignment, variant calling, and annotation to deliver high-confidence genomic variants. Built on GATK best practices.
Preprocessing
Removal of low-quality reads and adapters to ensure high-quality input data.
Alignment & BQSR
Alignment to reference genome (hg38) and Base Quality Score Recalibration.
Variant Calling
Detection of SNPs and Indels using GATK HaplotypeCaller.
VQSR / Filtering
Variant Quality Score Recalibration and hard filtering to reduce false positives.