Methods

  • Linkage analysis
  • Genome-wide association studies (GWAS)
  • Exome sequencing
  • SNP Genotyping (Affymetrix SNP6 array, Sequenom MassArray, Fluigdigm, Taqman, Simple probe)
  • Gene expression (Affymetrix U133 and exon arrays, Quantitative PCR, RNAseq)
  • DNA methylation (Sequenom EpiTyper, analysis of Illumina Methylation450 array)
  • Microsatellite analysis
  • Sensitive detection of low frequency somatic mutations (High resolution Melting (HRM), Allele specific PCR)
  • Sample authentication using STR-profiling
  • Biobank
  • Bioinformatics tools: Partek Genomic Suite, UCSC genome browser, 1000genome, HapMap, Merlin, Genehunter, PLINK, Haploview, Gold, Affymerix Gene Expression and Genotyping Console, Chromosome Analysis Suite, Savant, IGV, IGB, Osiris, BC Platform for data management