We are providing help, and are collaborating in many projects related to bioinformatics and medicine in the Oslo-region. Some concrete examples are listed below.
Sequence and protein analysis
We use a wide range of software to predict and evaluate the functional effects of gene mutations in patients with diseases. Some examples of papers we contributed to are listed below.
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
Microarray analysis
We provide help on managing and storing large amount of data, perform quality checks and normalization, and help with the analysis in several expression analysis studies using microarrays. Two examples of studies we participated in are:
Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9
Expression of genes in normal human monocytes in response to Aspergillus fumigatus
Genome-wide association studies
Research involving bioinformatics often require handling and storing huge amounts of data. We have access to large servers and high computational power and can perform quality checks as well as normalization for large genome-wide association studies. We also provide help in analyzing the results of such studies.
General guidance on software use and installation
A vast amount of software is used in research related to bioinformatics, and knowing exactly which software best suited to your needs can be crucial with regards to time, cost and the quality of the results. We can guide you through the jungle of available software, and provide help on installation and use like we did in this study:
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
Web services and databases
We aid several groups in constructing and maintaining web-based bioinformatics services. Some examples are
Hyperbrowser
