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Generative modelling of outlier effects and rare genetic effects on gene expression

Andrea Senacheribbe (Ph.D. Student)

In the human genome, rare variants can play an important role in disease risk. Understanding these variants may help to discover individual predisposition to complex diseases and their heritability. Our aim is to develop interpretable generative modelling strategies that allow to capture the effect of rare genetic variants on gene expression. Technically, this project will entail latent variable modelling of single and multiple omics modalities as well as embeddings of genetic risk factors. We aim to identify linkages between rare genetic effects and molecular states across different cells.

Primary Host: Oliver Stegle (German Cancer Research Center (DKFZ) & EMBL Heidelberg)
Exchange Host: Mihaela van der Schaar (University of Cambridge, The Alan Turing Institute & University of California)
PhD Duration: 01 May 2022 - 30 April 2025
Exchange Duration: 01 October 2023 - 31 March 2024 - Ongoing