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Genetic variants that alter gene regulation in specific cell types are closely tied to disease

Published: 10/28/2026, 12:00 AM

Heini M. Natri is in the Bioinnovation and Genome Sciences Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona 85004, USA. Search author on: PubMed Google Scholar Nicholas E. Banovich is in the Bioinnovation and Genome Sciences Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona 85004, USA. Search author on: PubMed Google Scholar Four years ago, scientists reported findings from the OneK1K project1. This large-scale initiative involved sequencing RNA from cells donated by around 1,000 people with the goal of identifying genetic variants that affect gene expression and disease risk. An expansion of that project, TenK10K, now combines single-cell RNA-sequencing data with other kinds of molecular profiling with the aim of mapping and characterizing genetic variants in 50 million cells from a diverse cohort of 10,000 individuals. Writing in Nature, Cuomo et al.2, Xue et al.3 and Tanudisastro et al.4 introduce findings from TenK10K’s first phase. Access Nature and 54 other Nature Portfolio journals Get Nature+, our best-value online-access subscription Prices may be subject to local taxes which are calculated during checkout Article PubMed Google Scholar Cuomo, A. S. E. et al. Nature https://doi.org/10.1038/s41586-026-10721-2 (2026).