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Unique Molecular Identifier (UMI)

Definition
AI-generated

A unique molecular identifier (UMI) is a random molecular barcode added to cDNA before PCR in many single-cell RNA-seq protocols.

Synonyms

Why it matters in GWAS

Accurate per-cell count matrices underpin clustering, pseudobulk aggregation, and eQTL models; UMI-aware counting reduces technical noise that can obscure genetic effects.

Example usage

"We collapsed reads by UMI and cell barcode to build a sparse count matrix for downstream analysis."

References

  • 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
  • Islam S, et al. (2014). Quantitative single-cell RNA-seq with unique molecular identifiers. Nat Methods.

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