To enable effective oxygen transport,∼ 200 billion red blood cells (RBCs) need to be
produced every day in the bone marrow through the fine-tuned process of erythropoiesis …

Erythropoiesis is a process of enormous magnitude, with the average person generating two
to three million red cells every second. Erythroid progenitors start as large cells with large …

Incidence of gestational diabetes (GDM) has increased rapidly. It poses significant risks for
both mother and fetus affecting also negatively their longer-term metabolic heath. We asked …

Iron is essential for many biological processes, but iron levels must be tightly regulated to
avoid harmful effects of both iron deficiency and overload. Here, we perform genome-wide …

Genome-wide association studies (GWASs) have identified hundreds of thousands of
genetic variants associated with complex diseases and traits. However, most variants are …

Nuclear receptors (NRs), are a wide family of ligand-regulated transcription factors sharing a
common modular structure composed by an N-terminal domain and a ligand-binding …

Mapping genetic variants that regulate gene expression (eQTL mapping) in large-scale RNA
sequencing (RNA-seq) studies is often employed to understand functional consequences of …

Abstract Renal erythropoietin (Epo)-producing (REP) cells represent a rare and incompletely
understood cell type. REP cells are fibroblast-like cells located in close proximity to blood …

Background: Depending on post-donation erythropoiesis, available iron stores, and iron
absorption rates, optimal donation intervals may differ between donors. This project aims to …

Multiple statistical methods for aggregate association testing have been developed for
whole-genome sequencing (WGS) data. Many aggregate variants in a given genomic …