DATA ANALYSIS

 

 

For data analysis, bioinformatics is a crucial step in data generation. We have several large servers and a team of experienced bioinformaticians to run state-of-the-art pipelines. We have generated several large datasets for our own research and for external customers. Therefore, we can deliver bioinformatic services that are optimized from the first read that gets off the sequencer up until variant calling and annotation.

 

We deliver the following bioinformatic services:

 

 

 

 

 

DNA sequencing analyses

 -- SNV and indel calling and annotation

 -- CNV calling

 -- SV calling

 

Raptor X

 -- is our newly developed exome variant annotation pipeline

 -- exome seq data is delivered with state-of-the art variant information

     -- position, function, population freq in 6 different databases

     -- pathogenicity predictions from 9 programs based on aa changes

         and from 7 programs based on evolutionary conservation

     -- gene expression data from Tiger and ExpressionAtlas

     -- in a csv/txt file format easy to analyse in Excel or Spotfire

RNA sequencing analyses

 -- Expression

 -- Alternative splicing

 -- 16S rRNA Operational Taxonomic Units caling and annotation

Array data analyses

 -- Genomewide association analysis

 -- Imputation

 -- QC

 -- DNA methylation: data normalisation, cell type ratio estimation

 

 

Analyses for aiding in family studies

  -- Linkage analysis

  -- Exome sequening data analysis and filtering

  -- We offer advise for study design and help with analysis

 

 

 

 

 

 

Please contact us for further information.