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Genetic Demultiplexing

Definition
AI-generated

Genetic demultiplexing assigns single cells to individual donors in multiplexed single-cell experiments by matching scRNA-seq–inferred genetic variation to known genotypes (or, in some methods, latent variation without a full reference).

Why it matters in GWAS

Linking each cell to germline genotype enables sc-eQTL mapping and integration with GWAS cohorts; multiplexing reduces cost per donor but requires robust demultiplexing and QC.

Example usage

"At this locus, Genetic Demultiplexing annotations were used to prioritize plausible biological mechanisms."

References

  • Kang HM, et al. (2018). Multiplexed droplet single-cell RNA-sequencing using natural genetic variation. Nat Biotechnol.
  • Cuomo ASE, Nathan A, Raychaudhuri S, et al. (2023). Single-cell genomics meets human genetics. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00599-5

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