Faculty of Health Science – Epidemiology, Biostatistics and Biodemography – Human Genetics – SDU

Body mass index is an important indicator for determining obesity, which is highly correlated with cardiometabolic problem like coronary heart disease. It is contributed form multiple genetic and epigenetic factors. In this study, we focus on DNA methylation study and use twins discordant for BMI to control the genetic factors. Our results could benefit the public in the aspects of improve life quality and drug development. We have collected 30 twin pairs and measure their methylation level using reduced presentation bisulfite sequencing (RRBS) technology. RRBS is based on sequencing technology and it is a relatively new. The pipeline for processing such type of data is rather complex. Millions of reads need to be processed and mapped onto reference human genome, and the process need large amount of computational power.

Faculty of Health Science – Department of Clinical Research – Human Genetics – SDU

Breast cancer is the most common cancer among women. Up to 10% of all cases are inherited. Since breast cancer is associated with high mortality patients with a strong family history of breast/ovarian cancer are referred to screening of the high-risk genes BRCA1 and BRCA2. In families where a mutation is identified, half of the daughters of a mutation carrier will not carry it and they can be spared prophylactic mastectomy and oophorectomy. Patients with BRCA1/2 mutations have been shown to respond better to certain types of chemotherapy and a new targeted treatment, PARP inhibitors. A major problem in clinical managing is that mutations in BRCA1/2 are only identified in app. 10% of referred families hampering counseling and treatment.

We will seek to improve treatment and counseling of hereditary breast cancer by identifying molecular subtypes and the missing causal genetic factors for non-BRCA1/2 familial breast cancers.

Center for Sensory-Motor Interaction (SMI) – Department of Health Science and Technology – Aalborg University (AAU)

Our work concerns Brain Computer Interfaces, translating EEG into control signals for a variety of assistive devices. EEG is very dense data and can be analyzed in many ways. Thus, HPC is in high demand for explorative EEG studies. ABACUS 2.0 enabled us to extract and evaluate a large number features of the EEG recorded during internal speech, and thus reveal patterns that enabled a Random Forest algorithm to predict the internally spoken words. The preliminary results show a >70 % classification accuracy in a 6-class problem.

Faculty of Health Science – Epidemiology, Biostatistics and Biodemography – Human Genetics – SDU

The research is about genetic epidemiology and medical bioinformatics on human complex diseases, aging and development. HPC provides an irreplaceable platform for increasing computational load and demanding data storage capacity big data in medical genomics. The data run on ABACUS 2.0 is Genome-wide SNPs genotype data and whole genome DNA methylation sequencing data.

We performed a genome-wide association study on cognition and an article have been published. The methylation sequencing data is still running.