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
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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.