Clinically calibrated bioinformatic information? Assess bioinformatic features of proven pathogenic and non-pathogenic variants in large datasets -Determine the proportion of pathogenic variants in a…
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Segregation data
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Other components of the model?
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Alignment to ACMG codes?
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Recent examples of calibration
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BRCA1/2 functional assay calibration
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Estimating Functional Assay LRs
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BRCA1/2 splicing assay calibration
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Strength of evidence for splicing data
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Population allele frequency as a predictor
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Strength of evidence for population frequency
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TP53 ACMG code strengths - starting from scratch
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Converting bioinformatic predictions to ACMG/AMP
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Comparing tool performance
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Comparing performance for tools in combination
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Specifying PM5 ACMGIAMP rule for TP53
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Using somatic data - somatic to germline ratio
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Using somatic data - Second hit
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Conclusions
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Acknowledgements for work presented here
Description:
Explore approaches to classifying variants in TP53 and other hereditary cancer genes in this informative webinar. Gain an overview of current methods for interpreting germline variants, comparing ACMG codes with quantitative classification models. Learn how to mine data to determine the applicability and weight of evidence codes for specific genes. Discover insights on bioinformatic feature assessment, segregation data analysis, and functional assay calibration for genes like BRCA1/2. Examine the process of converting bioinformatic predictions to ACMG/AMP guidelines, compare tool performances, and understand the use of somatic data in classification. This comprehensive presentation, featuring Amanda Spurdle, PhD, and moderated by Sarah Campian, MS CGC, offers valuable knowledge for professionals working in genetic variant interpretation and hereditary cancer research.
Approaches to Classification of Variants in TP53 and Other Hereditary Cancer Genes - Ambry Genetics