The genomic architecture of sickle cell disease in children from West Africa

Sickle cell disease (SCD) is caused by a pathogenic hemoglobin (Hb) mutation, yet patients can have dramatically variable clinical manifestations. Here we address the genetic basis of this clinical heterogeneity. Using a systems genetics approach, we performed whole blood gene expression analysis and eQTL analysis on different clinical phenotypes in SCD patients.

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Quinlan J, Idaghdour Y, Goulet JP, Gbeha E, de Malliard T, Bruat V, Grenier JC, Gomez S, Sanni A, Rahimy MC, Awadalla P