Whole Genome Analysis workshop-2
The Blueprint of Precision Medicine Harness AI-accelerated workflows and Deep Learning architectures to master large-scale WGS data interpretation.
Course Description
In the 2026 genomic era, shifting from panel testing to Whole Genome Sequencing (WGS) is the definitive step toward personalized healthcare. This intensive workshop provides a hands-on deep dive into the end-to-end WGS pipeline, emphasizing AI-driven variant calling and automated discovery. Participants will move beyond traditional GATK workflows to master Google DeepVariant and NVIDIA Clara Parabricks, leveraging GPU acceleration to reduce analysis time from days to minutes. We explore the complexities of the human genome, including Structural Variant (SV) detection, Copy Number Variation (CNV), and non-coding region annotation. By integrating Genomic Foundation Models like HyenaDNA, this workshop empowers you to navigate the 3 billion base pairs of the human blueprint with unprecedented speed, accuracy, and clinical relevance.
What You'll Learn
Scalable Data QC: Implement AI-enhanced error correction to identify and fix systematic sequencing artifacts.
High-Fidelity Alignment: Master BWA-MEM and DRAGEN-OS workflows for precise reference mapping to GRCh38.
AI-Powered Variant Calling: Utilize DeepVariant’s neural networks to achieve superior SNP and Indel detection sensitivity.
Complex Variation Mastery: Identify large-scale Structural Variants (SVs) and CNVs often missed by exome sequencing.
Tertiary Analysis & Annotation: Use Explainable AI (XAI) tools to prioritize pathogenic variants and interpret non-coding drivers.
HPC & Cloud Deployment: Deploy reproducible, production-grade pipelines using Nextflow on AWS HealthOmics.
Curriculum
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Scalable Data QC: Implement AI-enhanced error correction to identify and fix systematic sequencing artifacts.
Lesson -
High-Fidelity Alignment: Master BWA-MEM and DRAGEN-OS workflows for precise reference mapping to GRCh38.
Lesson -
AI-Powered Variant Calling: Utilize DeepVariant’s neural networks to achieve superior SNP and Indel detection sensitivity.
Lesson -
Complex Variation Mastery: Identify large-scale Structural Variants (SVs) and CNVs often missed by exome sequencing.
Lesson -
Tertiary Analysis & Annotation: Use Explainable AI (XAI) tools to prioritize pathogenic variants and interpret non-coding drivers.
Lesson -
HPC & Cloud Deployment: Deploy reproducible, production-grade pipelines using Nextflow on AWS HealthOmics.
Lesson
