Single-Cell Genomics

Tying genotype to phenotype, cell by cell

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Science  20 Apr 2018:
Vol. 360, Issue 6386, pp. 281-282
DOI: 10.1126/science.360.6386.281-b

RNA transcripts can now be sequenced within single cells. Such studies identify variants that affect gene expression at a level that may not be detected by bulk sequencing. Van der Wijst et al. sequenced ∼25,000 individual blood cells from 45 individuals. Expression quantitative trait loci that had previously been identified in bulk studies were found, which helped validate the approach. An additional 287 genes were identified that showed differences in expression in single cells resulting from genetic variation, 48 of which differed among cell types. Furthermore, single-cell sequencing detected variants that affect regulatory networks and revealed personalized coexpression patterns.

Nat. Genet. 10.1038/s41588-018-0089-9 (2018).

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