Mariska Slofstra
A5076530169- Metabolomics and Mass Spectrometry Studies
- Genetic Associations and Epidemiology
- Tryptophan and brain disorders
- Diet and metabolism studies
- Big Data Technologies and Applications
- Genomics and Rare Diseases
- Gene expression and cancer classification
- Scientific Computing and Data Management
- Machine Learning in Bioinformatics
- Lipid metabolism and biosynthesis
- Health disparities and outcomes
- Semantic Web and Ontologies
- Cancer Genomics and Diagnostics
- Immune Response and Inflammation
- Inflammasome and immune disorders
- Research Data Management Practices
- Data Visualization and Analytics
- Molecular Biology Techniques and Applications
- Data Mining Algorithms and Applications
- Streptococcal Infections and Treatments
- Genomics and Phylogenetic Studies
- Management, Economics, and Public Policy
- Genetics, Bioinformatics, and Biomedical Research
- Data Quality and Management
- Video Analysis and Summarization
University of Groningen
2018-2024
University Medical Center Groningen
2018-2024
Institut thématique Génétique, génomique et bioinformatique
2018
Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing.This study aimed to obtain an experts' consensus the significance gene variants in four well-known genes: MEFV, TNFRSF1A, NLRP3 MVK.We configured a MOLGENIS web platform share analyse pathogenicity classifications manage consensus-based classification process. Four...
The volume and complexity of biological data increases rapidly. Many clinical professionals biomedical researchers without a bioinformatics background are generating big '-omics' data, but do not always have the tools to manage, process or publicly share these data.Here we present MOLGENIS Research, an open-source web-application collect, analyze, visualize large complex datasets, need for advanced skills.MOLGENIS Research is freely available (open source software). It can be installed from...
The blood metabolome incorporates cues from the environment and host's genetic background, potentially offering a holistic view of an individual's health status.
Each year diagnostic laboratories in the Netherlands profile thousands of individuals for heritable disease using next-generation sequencing (NGS). This requires pathogenicity classification millions DNA variants on standard 5-tier scale. To reduce time spent data interpretation and increase quality reliability, nine Dutch labs decided to publicly share their classifications. Variant classifications nearly 100,000 unique were catalogued compared a centralized MOLGENIS database. Variants...
This paper introduces dsTidyverse, an R package designed to enhance data handling within the federated analysis platform DataSHIELD. DataSHIELD enables multi-site without direct sharing, crucial for privacy-sensitive research. While facilitates complex analysis, it lacks user-friendly manipulation tools. dsTidyverse addresses this by implementing selected functions from “Tidyverse” ecosystem DataSHIELD’s client-server architecture. The provides functionality selecting, renaming, and creating...
Abstract In silico variant interpretation pipelines have become an integral part of genetics research and genome diagnostics. However, challenges remain for automated candidate shortlisting. Their reliability is affected by variability in input data caused due the use differing sequencing platforms, erroneous nomenclature changing experimental conditions. Similarly, differences predictive algorithms can result discordant results. Finally, scalability essential to accommodate large amounts...
Information on the health-related consequences of rare chromosome disorders is often limited, posing challenges for both patients and their families. The Chromosome 6 Project aims to bridge this knowledge gap structural aberrations involving by providing parents affected children with information expected phenotypes child. To achieve this, detailed phenotype genotype data collected directly from worldwide supplemented literature reports, resulting thus far in a dataset over 500 individuals....
Abstract Summary Extensive human health data from cohort studies, national registries, and biobanks can reveal lifecourse risk factors impacting health. Combining these sources offers increased statistical power, rare outcome detection, replication of findings, extended study periods. Traditionally, this required transfer to a central location or separate partner analyses with pooled summary statistics, posing ethical, legal, time constraints. Federated analysis—which involves remote...
ABSTRACT The blood metabolome incorporates cues from the environment as well host’s genetic background, potentially offering a holistic view of an individual’s health status. We have compiled vast resource 1 H-NMR metabolomics and phenotypic data encompassing over 25,000 samples derived 26 community hospital-based cohorts. Using this resource, we constructed metabolomics-based age predictor (metaboAge) to calculate biological age. Exploration in independent cohorts demonstrates that being...
Summary. Extensive human health data from cohort studies, national registries, and biobanks can reveal lifecourse risk factors impacting health. Combining these sources offers increased statistical power, rare outcome detection, replication of findings, extended study periods. Traditionally, this required transfer to a central location or separate partner analyses with pooled summary statistics, posing ethical, legal, time constraints. Federated analysis – which involves remote without...
An amendment to this paper has been published and can be accessed via a link at the top of paper.