Eleven grand challenges in single-cell data science

D Lähnemann, J Köster, E Szczurek, DJ McCarthy… - Genome biology, 2020 - Springer
The recent boom in microfluidics and combinatorial indexing strategies, combined with low
sequencing costs, has empowered single-cell sequencing technology. Thousands—or even …

Accurate and scalable variant calling from single cell DNA sequencing data with ProSolo

D Lähnemann, J Köster, U Fischer, A Borkhardt… - Nature …, 2021 - nature.com
Accurate single cell mutational profiles can reveal genomic cell-to-cell heterogeneity.
However, sequencing libraries suitable for genotyping require whole genome amplification …

[HTML][HTML] CopyMix: mixture model based single-cell Clustering and Copy Number Profiling using Variational Inference

N Safinianaini, CPE De Souza, A Roth… - … Biology and Chemistry, 2024 - Elsevier
Investigating tumor heterogeneity using single-cell sequencing technologies is imperative to
understand how tumors evolve since each cell subpopulation harbors a unique set of …

Improved differential expression analysis of miRNA-seq data by modeling competition to be counted

SH Jun, MK Halushka, MN McCall - bioRxiv, 2024 - biorxiv.org
MicroRNAs play a central role in regulating gene expression and modulating diseases.
Despite the importance of microRNAs, statistical methods for analyzing them have received …

ProSolo: Accurate variant calling from single cell DNA sequencing data

D Lähnemann, J Köster, U Fischer, A Borkhardt… - bioRxiv, 2020 - biorxiv.org
Obtaining accurate mutational profiles from single cell DNA is essential for the analysis of
genomic cell-to-cell heterogeneity at the finest level of resolution. However, sequencing …

Variational methods for phylogeny and single-cell genomics

H Koptagel - 2023 - diva-portal.org
The investigation of the evolutionary history of organisms, both at the cellular level and at the
species level, is a relevant research topic in computational biology. These investigations …

Novel likelihood-based inference techniques for sequential data with medical and biological applications

N Safinianaini - 2022 - diva-portal.org
The probabilistic approach is crucial in modern machine learning, as it provides
transparency and quantification of uncertainty. This thesis is concerned with the probabilistic …