Building a Scalable Clinical Genomics Program - Spring 2021

Building a Scalable Clinical Genomics Program - Spring 2021

Stanford Radiology via YouTube Direct link

Limitations of Tissue-Based DNA Sequencing

17 of 30

17 of 30

Limitations of Tissue-Based DNA Sequencing

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Building a Scalable Clinical Genomics Program - Spring 2021

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  1. 1 Intro
  2. 2 Comprehensive NGS-Based DNA Testing at MSKCC
  3. 3 MSK-IMPACT for Tumor Tissue Profiling
  4. 4 Clinical Interpretation of Sequence Variants OnceKB
  5. 5 Automated Monitoring for Precision Oncology Clinica
  6. 6 MSK-IMPACT Data Sharing Paradigm
  7. 7 Additional Features Revealed Through TIN Sequencin
  8. 8 Clinical Germline Assessment
  9. 9 Inferring Cancer Risk Through T/N Sequencing Tumor DNA
  10. 10 Prevalence of Clonal Hematopoiesis
  11. 11 Clonal Hematopoiesis Clinic at MSKCC
  12. 12 How Do Germline Variants Influence Somatic Phenoty
  13. 13 Prevalence of Pathogenic Mutations by Cancer Type
  14. 14 Prevalence of Biallelic Inactivation by Cancer Type
  15. 15 Many cancer are independent of the germline allele
  16. 16 Germline Contributions to Clonal Hematopoiesis?
  17. 17 Limitations of Tissue-Based DNA Sequencing
  18. 18 Genomic Profiling Using Plasma Cell-free DNA CFDNA
  19. 19 Rare Variant Detection: Ultra-Deep Sequencing & Erra Suppression
  20. 20 MSK-ACCESS for Plasma cfDNA Profiling
  21. 21 Clinical Implementation of MSK-ACCESS at MSK - Approved by NYS Department of Health in May 2019
  22. 22 Importance of Sequencing Matched Normal WBCs Identify and eliminate garming and clonal hematopoinsis variants
  23. 23 Polyclonal Acquired Resistance is commonly Observ
  24. 24 Additional Examples of Polyclonal Resistance Mutatic
  25. 25 Ongoing work: Increase sensitivity for detecting ctDN
  26. 26 Patients with Lynch Syndrome Develop MSI-H Tumors
  27. 27 Detecting MSi in cDNA Using MSK-ACCESS
  28. 28 Future Prospects for Clinical Sequencing • Incorporate more genes, non-coding regions, viral DNA
  29. 29 Acknowledgements: Molecular Diagnostics Service
  30. 30 Acknowledgements (Part 2)

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