Publication: Functional analysis of structural variants in single cells using Strand-seq
Functional analysis of structural variants in single cells using Strand-seq
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Jeong, H., Grimes, K., Rauwolf, K. K., Bruch, P.-M., Rausch, T., Hasenfeld, P., Benito, E., Roider, T., Sabarinathan, R., Porubsky, D., Herbst, S. A., Erarslan-Uysal, B., Jann, J.-C., Marschall, T., Nowak, D., Bourquin, J.-P., Kulozik, A. E., Dietrich, S., Bornhauser, B., … Korbel, J. O. (2023). Functional analysis of structural variants in single cells using Strand-seq. Nature Biotechnology, 41(6), 832–844. https://doi.org/10.1038/s41587-022-01551-4
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Abstract
Somatic structural variants (SVs) are widespread in cancer, but their impact on disease evolution is understudied due to a lack of methods to directly characterize their functional consequences. We present a computational method, scNOVA, which uses Strand-seq to perform haplotype-aware integration of SV discovery and molecular phenotyping in single cells by using nucleosome occupancy to infer gene expression as a readout. Application to leukemias and cell lines identifies local effects of copy-balanced rearrangements on gene deregulat
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Creators (Authors)
- Jeong, Hyobin
- Grimes, Karen
- Rauwolf, Kerstin K
- Bruch, Peter-Martin
- Rausch, Tobias
- Hasenfeld, Patrick
- Benito, Eva
- Roider, Tobias
- Sabarinathan, Radhakrishnan
- Porubsky, David
- Herbst, Sophie A
- Erarslan-Uysal, Büşra
- Jann, Johann-Christoph
- Marschall, Tobias
- Nowak, Daniel
- Bourquin, Jean-Pierre
- Kulozik, Andreas E
- Dietrich, Sascha
- Bornhauser, Beat
- Sanders, Ashley D
- Korbel, Jan O
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Jeong, H., Grimes, K., Rauwolf, K. K., Bruch, P.-M., Rausch, T., Hasenfeld, P., Benito, E., Roider, T., Sabarinathan, R., Porubsky, D., Herbst, S. A., Erarslan-Uysal, B., Jann, J.-C., Marschall, T., Nowak, D., Bourquin, J.-P., Kulozik, A. E., Dietrich, S., Bornhauser, B., … Korbel, J. O. (2023). Functional analysis of structural variants in single cells using Strand-seq. Nature Biotechnology, 41(6), 832–844. https://doi.org/10.1038/s41587-022-01551-4
