A5051067208- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Scientific Computing and Data Management
- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Genetic diversity and population structure
- Evolution and Genetic Dynamics
- Research Data Management Practices
- Geological Formations and Processes Exploration
- Genetics, Bioinformatics, and Biomedical Research
Stockholm University
2016-2017
Science for Life Laboratory
2016-2017
Uppsala University
2007-2013
Here we describe the SweGen data set, a comprehensive map of genetic variation in Swedish population. These represent basic resource for clinical genetics laboratories as well sequencing-based association studies by providing information on variant frequencies cohort that is matched to national patient cohorts. To select samples this study, first examined structure population using high-density SNP-array from nation-wide over 10 000 Swedish-born individuals included Twin Registry. A total...
Scientific research relies on computer software, yet software is not always developed following practices that ensure its quality and sustainability. This manuscript does aim to propose new development best practices, but rather provide simple recommendations encourage the adoption of existing practices. Software promote better improves reproducibility reusability research. These are designed around Open Source values, practical suggestions contribute making source code more discoverable,...
Analyzing and storing data results from next-generation sequencing (NGS) experiments is a challenging task, hampered by ever-increasing volumes frequent updates of analysis methods tools. Storage computation have grown beyond the capacity personal computers there need for suitable e-infrastructures processing. Here we describe UPPNEX, an implementation such infrastructure, tailored to needs storage NGS in Sweden serving various labs multiple instruments major technology platforms. UPPNEX...
Abstract Here we describe the SweGen dataset, a high-quality map of genetic variation in Swedish population. This data represents basic resource for clinical genetics laboratories as well sequencing-based association studies, by providing information on frequencies variants cohort that is matched to national patient cohorts. To select samples this study, first examined structure population using high-density SNP-array from nation-wide based over 10,000 individuals. From sample collection,...
https://www.uppnex.uu.se/We present a solution for Next Generation Sequencing (NGS) data management and analysis using cluster-based approach with shared parallel file system, together graphical client web-based knowledge base. The initiative is named UPPNEX, has emerged as the leading platform vibrant NGS community in Sweden.For analysis, 900 000 computing hours per month are available via cluster of 2784 cores through SLURM queuing system. For primary storage, more than 420TB storage...