Motivation: Planned work: We will develop and benchmark tools for the analysis of structural variation in patient samples to detect disease genes and variants. We are using tools such as GATK, Gemini, speedseq, samtools, TIDDIT, CNVnator and freebayes to detect and filter variants. We also plan to continue our work and add other omics-fields to our genomic analysis, such as transcriptome analysis. A new doctoral student is joining the project and will be analyzing samples from Gothenburg university. We need storage and computational resources to continue our work, perform joint analysis, benchmarking and construct databases.