Background Thalassemia is an inherited hematological disorder categorized by a decrease
or absence of one or more of the globin chains synthesis. Beta‐thalassemia is caused by …

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in
the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from …

Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for …

The interpretation of non-coding variants still constitutes a major challenge in the application
of whole-genome sequencing in Mendelian disease, especially for single-nucleotide and …

Abstract HbVar (http://globin. bx. psu. edu/hbvar) is one of the oldest and most appreciated
locus-specific databases launched in 2001 by a multi-center academic effort to provide …

Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Much of our understanding of human physiology, and of many aspects of pathology, has its
antecedents in laboratory and clinical studies of hemoglobin. Over the last century …

Inherited haemoglobinopathies are the most common monogenic diseases, with millions of
carriers and patients worldwide. At present, we know several hundred disease-causing …

The high mortality and widespread impact of malaria have resulted in this disease being the
strongest evolutionary selective force in recent human history, and genes that confer …

The CRISPR/Cas system, an innovative gene-editing tool, is emerging as a promising
technique for genome modifications. This straightforward technique was created based on …