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bioinf-l@kam.mff.cuni.cz

December 2022

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Lecture invitation: Functionalizing the cancer genome base-by-base with CRISPR editing and computational tools
by Petr Danecek 02 Dec '22

02 Dec '22

Dear all, the next seminar will take place next week, please see the details below. We look forward to seeing you all! Title: Functionalizing the cancer genome base-by-base with CRISPR editing and computational tools Speaker: Victoria Offord, WSI Date and time: Wednesday 7/12/2022 - 17:20 Location: MFF UK, Malostranské nám. 25, lecture hall S6 http://bioinformatics.cuni.cz/seminar Best wishes, Petr Danecek ------------------------------- Victoria Offord /Functionalizing the cancer genome base-by-base with CRISPR editing and computational tools/* * Over the last decade, the reduction in costs for high throughput technologies has enabled us to sequence more human genomes than ever before. We can see this in the rapid expansion of the repositories used to store and share genetic data amongst researchers. To date, over 1.5 million variants have been submitted to ClinVar, a public database of clinically relevant variants. However, over 50% of these are variants of uncertain significance (VUS) for which we have no clear interpretation of their function. Multiplexed Assays of Variant Effect (MAVEs) can be used to generate variant effect maps, which, over time, may be used to aid clinical interpretations. Saturation genome editing (SGE) is a CRISPR-based MAVE which allows us to test all possible single- and multi-nucleotide or amino acid variations across a genomic region. We’ll discuss SGE, the community, available resources, tools being developed and how the data that we’ve been generating may go on to aid in the interpretation of VUS.

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