Programme Parameters
Foundation
4 Weeks (40 Hrs)
Online (e-LMS)
• No prior experience required — basic computer literacy is sufficient.
• A laptop or desktop with a stable internet connection.
• Willingness to complete assignments and the capstone project.
About This Course
AI in Genomics & Personalized Medicine sits at the meeting point of two revolutions: cheap genome sequencing and powerful machine learning. You learn to apply AI to genomic data — interpreting variants, predicting their functional and clinical impact, and modelling risk — and to integrate genomics with clinical data to guide individualised treatment. The course connects these to real precision-medicine applications, especially in oncology and pharmacogenomics, and to the fairness and privacy such decisions require. You finish able to reason about an AI genomics-to-treatment workflow. A verified e-Certificate of competency and e-Marksheet from the Deep Science & Technology Consortium.
🎯 Program Aim
This course covers AI in genomics and personalized medicine — integrating genomic data with machine learning to interpret variants and tailor treatment to the individual.
📋 Course Objectives
1. Interpret genomic variants with AI.
2. Predict functional and clinical impact.
3. Model genomic disease risk.
4. Integrate genomics with clinical data.
5. Guide individualised, fair treatment.
👥 Who Should Enroll?
• Genomics and biomedical researchers
• Clinical and bioinformatics professionals
• Precision-medicine and biotech teams
• Students of genomic medicine
🚀 Key Learning Outcomes
• An understanding of AI in genomic medicine.
• A genomics-to-treatment perspective.
• A precision-medicine foundation.
• A verified e-Certificate of competency and e-Marksheet from the Deep Science & Technology Consortium.
💎 What You'll Gain
Live & Recorded Sessions
Lifetime access to class recordingse-Certificate on Completion
Cryptographically verified credentialPost-Programme Support
Direct access to mentors & councilHands-On Experience
Notebooks, real-world code & datasetsCurriculum Outline
Sequencing Data and Reproducible Pipelines
• Platform characteristics and their error profiles: short read, long read and their trade-offs
• FASTQ, BAM and VCF: what each stores and where information is lost
• Alignment and variant calling with GATK best practices
• Quality control gates that must pass before any model sees the data
Variant Annotation and Clinical Classification
• Annotation with VEP or ANNOVAR; transcript choice changes the answer
• Population frequency filtering with gnomAD and ancestry-matched controls
• ACMG/AMP classification criteria and evidence weighting
• In-silico predictors including CADD, REVEL and AlphaMissense, and how much to trust them
Modelling Genomic Data Without Fooling Yourself
• Feature engineering on variant, expression and multi-omic data
• Class imbalance in rare-disease and biomarker problems
• Cross-validation that respects population structure and relatedness
• Data leakage: the most common reason a genomics model fails in the clinic
Sequence Models for Regulatory and Variant Effects
• CNNs for regulatory element and chromatin prediction
• DeepVariant and learned variant calling
• Long-range architectures for expression prediction from sequence
• Splice-effect prediction with SpliceAI and interpreting its scores
Polygenic Scores and Pharmacogenomics
• Constructing polygenic risk scores and their poor portability across ancestries
• Pharmacogenomic star-allele calling and CPIC guideline implementation
• Embedding results in clinical decision support without alert fatigue
Validation, Equity and Data Protection
• Analytical and clinical validation of an AI-assisted genomic test
• Explainability requirements when a model informs a clinical decision
• Ancestry representation and how unrepresentative training data harms patients
• Consent, data governance and compliance under GDPR and India's DPDP Act
Technical Specifications
| Parameter | Requirement |
|---|---|
| Covered Tool / Platform | BWA |
| Covered Tool / Platform | SAMtools |
| Covered Tool / Platform | GATK |
| Covered Tool / Platform | FastQC |
| Covered Tool / Platform | Trimmomatic |
| Covered Tool / Platform | R/Bioconductor |
| Covered Tool / Platform | IGV |
| Covered Tool / Platform | PLINK |
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