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Building a Scalable Clinical Genomics Program - Spring 2021
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- 1 Intro
- 2 Comprehensive NGS-Based DNA Testing at MSKCC
- 3 MSK-IMPACT for Tumor Tissue Profiling
- 4 Clinical Interpretation of Sequence Variants OnceKB
- 5 Automated Monitoring for Precision Oncology Clinica
- 6 MSK-IMPACT Data Sharing Paradigm
- 7 Additional Features Revealed Through TIN Sequencin
- 8 Clinical Germline Assessment
- 9 Inferring Cancer Risk Through T/N Sequencing Tumor DNA
- 10 Prevalence of Clonal Hematopoiesis
- 11 Clonal Hematopoiesis Clinic at MSKCC
- 12 How Do Germline Variants Influence Somatic Phenoty
- 13 Prevalence of Pathogenic Mutations by Cancer Type
- 14 Prevalence of Biallelic Inactivation by Cancer Type
- 15 Many cancer are independent of the germline allele
- 16 Germline Contributions to Clonal Hematopoiesis?
- 17 Limitations of Tissue-Based DNA Sequencing
- 18 Genomic Profiling Using Plasma Cell-free DNA CFDNA
- 19 Rare Variant Detection: Ultra-Deep Sequencing & Erra Suppression
- 20 MSK-ACCESS for Plasma cfDNA Profiling
- 21 Clinical Implementation of MSK-ACCESS at MSK - Approved by NYS Department of Health in May 2019
- 22 Importance of Sequencing Matched Normal WBCs Identify and eliminate garming and clonal hematopoinsis variants
- 23 Polyclonal Acquired Resistance is commonly Observ
- 24 Additional Examples of Polyclonal Resistance Mutatic
- 25 Ongoing work: Increase sensitivity for detecting ctDN
- 26 Patients with Lynch Syndrome Develop MSI-H Tumors
- 27 Detecting MSi in cDNA Using MSK-ACCESS
- 28 Future Prospects for Clinical Sequencing • Incorporate more genes, non-coding regions, viral DNA
- 29 Acknowledgements: Molecular Diagnostics Service
- 30 Acknowledgements (Part 2)