A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease

Shomroni, O.; Sitte, M.; Schmidt, J.; Parbin, S.; Ludewig, F.; Yigit, G.; Zelarayan, L. C.; Streckfuss-Bömeke, K.; Wollnik, B.; Salinas, G.

doi:10.1101/2021.10.25.465702

bioRxiv · 10.1101/2021.10.25.465702

A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease

Shomroni, O.·Sitte, M.·Schmidt, J.·Parbin, S.·Ludewig, F.·Yigit, G.·Zelarayan, L. C.·Streckfuss-Bömeke, K.·Wollnik, B.·Salinas, G.

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Abstract

Advances in single cell multi-omics analysis such as the ability of a genotype to show phenotypic diversity lead to a comprehensive understanding of cellular events in human diseases. The cardinal feature to access this information is the technology used for single-cell isolation, barcoding, and sequencing. While numerous platforms have been reported for single-cell RNA-sequencing, technical enhancements are needed in terms of highly purified single cell selection, cell documentation or limitations in cell sizing and chemistry. In this study, we present a novel high-throughput platform using a full-length RNA-sequencing approach that offers substantial technical improvements of all parameters. We applied this platform to dermal fibroblasts derived from six patients with different segmental progeria syndromes and defined phenotype-associated pathway signatures and variant-associated expression modifiers. These results validate the applicability of our platform to highlight genotype-expression relationships for molecular phenotyping in ageing disorders.

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Shomroni, O., Sitte, M., Schmidt, J., Parbin, S., Ludewig, F., Yigit, G., Zelarayan, L. C., Streckfuss-Bömeke, K., Wollnik, B., Salinas, G.. 2021-10-26. A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease. https://doi.org/10.1101/2021.10.25.465702

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