Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

Sheep possess desirable characteristics for farmers such as resistance to disease, good
acclimation to environmental fluctuations, and endurance to extreme weather. This may, in …

Hereditary xerocytosis is a rare red blood cell disease related to gain‐of‐function mutations
in the FAM38A gene, encoding PIEZO1, in 90% of cases; PIEZO1 is a broadly expressed …

Background The evolutionary pressure of endemic malaria and other erythrocytic pathogens
has shaped variation in genes encoding erythrocyte structural and functional proteins …

Summary Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and
non-coding disease-causing variants, has largely been applied to clinical diagnosis of …

Activation of the hypoxia-inducible factor (HIF) pathway reprograms energy metabolism.
Hemoglobin (Hb) is the main carrier of oxygen. Using its normal variation as a surrogate …

The aim of this study was to cross-sectionally and longitudinally examine whether higher
hemoglobin (Hb) levels within the normal variation associate with key components of …

Enhancers are cis-regulatory elements that play critical regulatory roles in modulating
developmental transcription programs and driving cell-type-specific and context-dependent …

Patients with inherited anemia and hemoglobinopathies (such as sickle cell disease and β-
thalassemia) are treated with red blood cell (RBC) transfusions to alleviate their symptoms …

The replication of Plasmodium falciparum parasites within red blood cells (RBCs) causes
severe disease in humans, especially in Africa. Deleterious alleles like hemoglobin S are …