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2 GoKawiil briefs on this topic

Researchers release population-scale immune multiome atlas linking regulatory variants to disease

A research consortium has published a large-scale multiome dataset profiling gene expression and chromatin accessibility across immune cell types in many individuals, generating single-cell eQTLs and chromatin accessibility QTLs. The dataset is designed to help pinpoint which genetic variants associated with disease actually alter gene regulation in specific immune cell states, building on prior efforts like GTEx, ENCODE and FinnGen.

Study links BACH2 and NRF2 genes to fetal haemoglobin regulation

Researchers combined genome-wide association data from multiple cohorts—including general population groups and sickle cell disease patients from Tanzania, Brazil, the US and Thailand—to study genetic variants influencing fetal haemoglobin (HbF) levels. The analysis identified a BACH2–NRF2 gene axis as implicated in activating fetal haemoglobin production, drawing on differing study designs across ancestries and disease status.