The detection of “signatures of selection” is now possible on a genome-wide scale in many
plant and animal species, and can be performed in a population-specific manner due to the …

Background Atopic dermatitis (AD) is a common chronic inflammatory skin disease with high
heritability. Previous genome-wide association studies have identified several loci …

Motivation: The prioritization and identification of disease-causing mutations is one of the
most significant challenges in medical genomics. Currently available methods address this …

Induction of red blood cell (RBC) fetal hemoglobin (HbF; α2γ2) ameliorates the
pathophysiology of sickle cell disease (SCD) by reducing the concentration of sickle …

Most of the computational tools involved in drug discovery developed during the 1980s were
largely based on computational chemistry, quantitative structure‐activity relationship (QSAR) …

Next-generation sequencing, also known as massively paralleled sequencing, offers an
unprecedented opportunity to study disease mechanisms of inherited retinal dystrophies: a …

Next‐generation sequencing (NGS) technologies have greatly impacted on every field of
molecular research mainly because they reduce costs and increase throughput of DNA …

Cleft lip or palate (CL/P) is a common facial defect present in 1: 700 live births and results in
substantial burden to patients. There are more than 500 CL/P syndromes described, the …

Background Dystroglycanopathies are a clinically and genetically heterogeneous group of
disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 …

Synthetic nucleic acid sequences that bind to ribonucleic acid (RNA) through Watson‐Crick
base pairing are known as antisense oligonucleotides (ASOs) because they are …