On Monday, November 10, at 17:00 EET we are delighted to host our guest Dr. Katharina Schmid who give a talk about detection of copy-number variation (CNV) in single-cell data.

Talk: 

Dr. Katharina Schmid, "Identifying copy number variations in single-cell data", Biomedical Center (BMC), LMU Munich, Germany

Keywords: copy-number variation calling, single-cell

Abstract: Copy number variations (CNVs), the gain or loss of genomic regions, are associated with disease, especially cancer. Single cell technologies offer new possibilities to capture within-sample heterogeneity of CNVs and identify subclones relevant for tumor progression and treatment outcome. Our lab developed a CNV caller for scATAC-seq, epiAneufinder, which we are currently extending for new functionalities. Furthermore, we performed an independent benchmarking of six popular CNV callers for scRNA-seq in their ability to correctly identify ground truth CNVs, euploid cells and subclonal structures in 21 scRNA-seq datasets.

Resources:

• Katharina Schmid et al 2025, Nature Comm, "Benchmarking scRNA-seq copy number variation callers", https://www.nature.com/articles/s41467-025-62359-9

Format: Online, free to attend, registration required: zoom

Organization: YMS is organized by RSBI and is linked to RoBioinfo Seminars

Chair: Madalina Giurgiu-Kraljic

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