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New paper in Bioinformatics

Congratulations to Kaspar Martens on having his paper accepted in Bioinformatics.

Cell type identification plays an important role in the analysis and interpretation of single-cell data and can be carried out via supervised or unsupervised clustering approaches. Supervised methods are best suited where we can list all cell types and their respective marker genes a priori, while unsupervised clustering algorithms look for groups of cells with similar expression properties. This property permits the identification of both known and unknown cell populations, making unsupervised methods suitable for discovery. Success is dependent on the relative strength of the expression signature of each group as well as the number of cells. Rare cell types therefore present a particular challenge that is magnified when they are defined by differentially expressing a small number of genes.

New publication in BMC Bioinformatics

Congratulations to Joel Nulsen on having his paper accepted in BMC Bioinformatics.

Genomic insights in settings where tumour sample sizes are limited to just hundreds or even tens of cells hold great clinical potential, but also present significant technical challenges. We previously developed the DigiPico sequencing platform to accurately identify somatic mutations from such samples.

MLCB 2023

Congratulations to Kaspar Martens on having his paper accepted at MLCB 2023.

Generative models for multimodal data permit the identification of latent factors that may be associated with important determinants of observed data heterogeneity. Common or shared factors could be important for explaining variation across modalities whereas other factors may be private and important only for the explanation of a single modality. Multimodal Variational Autoencoders, such as MVAE and MMVAE, are a natural choice for inferring those underlying latent factors and separating shared variation from private. In this work, we investigate their capability to reliably perform this disentanglement. In particular, wehighlight a challenging problem setting where modality-specific variation dominates the shared signal. Taking a cross-modal prediction perspective, we demonstrate limitations of existing models, and propose a modification how to make them more robust to modalityspecific variation. Our findings are supported by experiments on synthetic as well as various real-world multi-omics data sets. The paper is available on PMLR.