Research
For a number of years I have been involved in research developing bioinformatics tools for primary immunodeficiencies, using a system biology approach to tackle these challenging diseases. The systems developed were ranging from databases, registries, classification/networks algorithms, decision support systems and ontologies (HPO) for PIDs. Most recently I have been involved in NIHR BioResource – Rare Diseases project which has sequenced the genomes of 1,400 individuals with primary immunodeficiency disorders. To integrate the diverse clinical information into analysis of the genomic data, we adopted the Human Phenotype Ontology (HPO) as the standardised vocabulary of phenotypic abnormalities. An on-going research priority within our department is the identification of novel immunodeficiency genes, therapies and building new bioinformatics tools to facilitate the management of these complexes diseases.
Publications
Samarghitean C, Väliäho J, Vihinen M. Chapter 45: Immunodeficiencies Information Services in Primary Immunodeficiencies Diseases: A Molecular and Genetic Approach. New York University Press. 2013
Samarghitean C. Primary Immunodeficiency Information Knowledge Services, Tampere University Press. 2012
Samarghitean C, Ortutay C, Vihinen M. Systematic classification of primary immunodeficiencies based on clinical, pathological, and laboratory parameters. J Immunol. 2009
Samarghitean C, Ortutay C, Vihinen M. Bioinformatics services related to diagnosis of primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2009
Samarghitean C, Väliäho J, Vihinen M. IDR knowledge base for primary immunodeficiencies. Immunome Res. 2007
