A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease
bioRxiv(2021)
摘要
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.
### Competing Interest Statement
The authors have declared no competing interest.
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关键词
phenotype,genotype,single-cell,rna-sequencing,ageing-disease
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