Severe congenital neutropenia (SCN) was originally described as an autosomal recessive
disorder. Subsequently, autosomal dominant and sporadic forms of the disease have been …

Elucidating the precise molecular events altered by disease-causing genetic variants
represents a major challenge in translational bioinformatics. To this end, many studies have …

We have developed EpDis and MassPred, extendable open source software tools that
support bioinformatic research and enable parallel use of different methods for the …

Hemophilia A is a relatively rare hereditary coagulation disorder caused by a defective F8
gene resulting in a dysfunctional Factor VIII protein (FVIII). This condition impairs the …

Background Neutrophils and eosinophils are multifunctional granulocytes derived from
common myelocytic-committed progenitor cells. Severe congenital neutropenia 1 (SCN1) …

Non-synonymous single nucleotide polymorphisms (SNPs) and mutations have been
associated with human phenotypes and disease. As more and more SNPs are mapped to …

Proteins are essential to life, having a great variety of roles in all organisms. They are the
ultimate micro-machines: some are building blocks, joining with other substances to make …

Proteinase3 (PR3) and human neutrophil elastase (HNE) are homologous proteases from
the polymorphonuclear neutrophils and have been thought for a long time to have close …

In recent years, numerous biocomputational tools have been designed to extract functional
and evolutionary information from multiple sequence alignments (MSAs) of proteins and …

The recent drop in genome sequencing costs has created a promising horizon for the
development of genomic medicine. Within the biomedical environment, sequencing data are …