Article
Integrating natural and engineered genetic variations to decode regulatory influence on blood traits.
Cell reports - 24 Feb 2026
Tardaguila Manuel, Von Schiller Dominique, Colombo Michela, Gori Ilaria, Coomber Eve L, Vanderstichele Thomas, Benaglio Paola, Chiereghin Chiara, Gerety Sebastian, Vuckovic Dragana, Landini Arianna, Clerici Giuditta, Casiraghi Aurora, Albers Patrick, Ray-Jones Helen, Burnham Katie L, Tokolyi Alex, Persyn Elodie, Spivakov Mikhail, Sankaran Vijay G, Walter Klaudia, Kundu Kousik, Pirastu Nicola, Inouye Michael, Paul Dirk S, Davenport Emma E, Sahlén Pelin, Watt Stephen, Soranzo Nicole
Abstract excerpt
Understanding the function of genetic variants associated with human traits and diseases remains a significant challenge. Here, we combined analyses based on natural genetic variation and genetic engineering to dissect the function of 94 non-coding variants associated with hematological traits. We describe 22 genetic variants impacting hematological variation through gene expression. Further, through in-depth...
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