Tuesday, 31 January 2023 12:18

Cancer research: insights into individual differences made possible by artificial intelligence Featured

Scientists at the Max Delbrück Center for Molecular Medicine (MDC), Berlin-Buch, and at the European Molecular Biology Laboratory (EMBL), Heidelberg, have developed an AI that can increasingly elucidate the cellular mechanisms involved in the development of cancer.


Cancer is an individual matter. Hardly any patient has the same cancer development as another patient. An important role plays in the body's declining ability to correct occurring mutations in the cells with increasing age. These are known as somatic structural variants or structural genome variants (SVs). This refers to chromosomal alterations of a specific size (1). More than one-half of all cancer-causing genomic alterations are thought to result from them.

Data obtained from strand-sequencing (strand-seq), a special single-cell sequencing method, are combined with a self-learning algorithm. This helps to clarify how structural changes in chromosomes can trigger cancer. The research team aims to identify the effects of SVs on cell function. The AI named scNOVA is well suited for this purpose.

For example, they were able to trace the molecular consequences of single somatic mutations in different leukemia patients (2). In samples from a leukemia patient, for example, the researchers were able to find different SVs with dysregulated signaling. The researchers are convinced that these signaling pathways can be targeted to enable tailored cancer treatments in the future.

Original paper:
Jeong, H., Grimes, K., Rauwolf, K.K. et al. Functional analysis of structural variants in single cells using Strand-seq. Nat Biotechnol (2022). https://doi.org/10.1038/s41587-022-01551-4.

Additional information:
(1) Ullmann, R. Structural genome variants. medgen 20, 401-406 (2008). https://doi.org/10.1007/s11825-008-0137-4
(2) https://www.bionity.com/de/news/1179321/hoffnungstraeger-ki-fuer-neue-krebstherapien.html?utm_source=newsletter&utm_medium=email&utm_campaign=bionityde&WT.mc_id=ca0264