The NGI runs internal research & development projects to establish new methods, benchmark techniques, and test new vendor kits. Where we believe this work to be of general interest to the scientific community, we make it open source.
13th January 2021 - Categories: Research & Development
Phased primers are used during the first PCR of amplicon library preparation in order to increase the complexity of the library. This increased complexity leads to improved sequencing quality.
4th September 2020 - Categories: Research & Development
Sarek: an open-source bioinformatic tool to detect germline variants and somatic mutations based on sequencing data from WGS, whole-exome sequencing (WES), or gene panels. Sarek offers easy, efficient, and reproducible analyses, and can readily be used both as a production workflow at sequencing facilities and as a powerful stand-alone tool for individual research groups.
17th August 2020 - Categories: Research & Development
Is total RNA fragmentation needed? Is rRNA depletion affected by fragmentation time? Or affected by input? Can we get reliable data when starting with low input?
13th February 2020 - Categories: Research & Development
Presenting a framework for high-quality bioinformatics pipelines that can be used across all institutions and research facilities.
23rd August 2017 - Categories: Research & Development
SweGen: generating a comprehensive data resource for population-based genetic variants that describes the landscape of genetic variation in the Swedish population
2nd May 2017 - Categories: Research & Development
Cluster Flow: a simple and flexible bioinformatics pipeline tool designed for quick and user-friendly installation, offers next-generation sequencing data analysis with pre-configured modules and pipelines for common bioinformatics tasks.
7th April 2017 - Categories: Research & Development
Presenting a novel approach for quick and cost effective WGBS library preparation that is based on splinted adaptor tagging (SPLAT) of bisulphite-converted single-stranded DNA.
19th October 2016 - Categories: Research & Development
MultiQC: a bioinformatics tool that automates the parsing of NGS metadata, creating a single summary report with powerful visualizations and a simple interface. MultiQC enables researchers to quickly identify global trends and biases, improving quality control processes and reducing the risk of batch effects in large-scale sequencing studies.