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.