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Mulder, N.

Publications and source records attributed to Mulder, N..

2 recordsLinked to original sources

Genome-Wide Association Study of Brain Connectivity Changes for Alzheimer’s Disease

Variations in the human genome have been found to be an essential factor that affects susceptibility to Alzheimers disease. Genome-wide association studies (GWAS) have identified genetic loci that significantly contribute to the risk of Alzheimers. The availability of genetic data, coupled with brain imaging technologies have opened the door for further discoveries, by using data integration methodologies and new study designs. Although methods have been proposed for integrating image characteristics and genetic information for studying Alzheimers, the measurement of disease is often taken at a single time point, therefore, not allowing the disease progression to be taken into consideration. In longitudinal settings, we analyzed neuroimaging and single nucleotide polymorphism datasets obtained from the Alzheimers Disease Neuroimaging Initiative for three clinical stages of the disease, including healthy control, early mild cognitive impairment and Alzheimers disease subjects. We conducted a GWAS regressing the absolute change of global connectivity metrics on the genetic variants, and used the GWAS summary statistics to compute the gene and pathway scores. We observed significant associations between the change in structural brain connectivity defined by tractography and genes, which have previously been reported to biologically manipulate the risk and progression of certain neurodegenerative disorders, including Alzheimers disease.

bioinformatics

A global perspective on bioinformatics training needs

In the last decade, life-science research has become increasingly data-intensive and computational. Nevertheless, basic bioinformatics and data stewardship are still only rarely taught in life-science degree programmes, creating a widening skills gap that spans educational levels and career roles. To better understand this situation, we ran surveys to determine how the skills dearth is affecting the need for bioinformatics training worldwide. Perhaps unsurprisingly, we found that respondents wanted more short courses to help boost their expertise and confidence in data analysis and interpretation. However, it was evident that most respondents appreciated their need for training only after designing their experiments and collecting their data. This is clearly rather late in the research workflow, and suboptimal from a training perspective, as skills acquired to address a specific need at a particular time are seldom retained, engendering a cycle of low confidence in trainees. To ensure that such skill gaps do not continue to create barriers to the progress of research, we argue that universities should strive to bring their life-science curricula into the digital-data era. Meanwhile, the demand for point-of-need training in bioinformatics and data stewardship will grow. While this situation persists, international groups like GOBLET are increasing their efforts to enlarge the community of trainers and quench the global thirst for bioinformatics training.

scientific communication and education