Development of a Convolutional Neural Network for Automated Copy Number Variants Validation and its Application in the UKB
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I gave a short presentation at NSHG-PM 2024 on the on the development and application of the CNN model that would later be published in BMC Bioinformatics. It’s the same presentation I gave at EurBioc in Oxford that year. You can find the slides of the presentation here.
The talk covers also very quickly the application of the method to the UKB and the Icelandic cohort at deCODE genetics. The results were never published but are described in the four the manuscript of my PhD thesis.