News » Keyword: data-methodology-publications

Data & Methodology Publication – A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing

22nd May 2024  -  Categories: Research & Development

A detailed characterization of the REH cell line using combination of short- and long-read DNA and RNA sequencing.

Data & Methodology Publication – Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH

10th October 2023  -  Categories: Research & Development

Open-source genomic, transcriptomic and epigenomic data sets (raw sequencing reads as well as assemblies and mapped BAM files) for a leukemic cell line (REH), available to the research community.

Data & Methodology Publication – Long-read whole-genome analysis of human single cells

24th August 2023  -  Categories: Research & Development

Showing the promise of long-read sequencing toward characterization of the full spectrum of genetic variation in single cells.

Data & Methodology Publication – scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation

6th April 2022  -  Categories: Research & Development

Introducing single cell Splinted Ligation Adapter Tagging (scSPLAT), a scalable plate-based protocol for single-cell WGBS library preparation, offering sample preparation at a higher scale and throughput.

Data & Methodology Publication – Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

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.

Data & Methodology Publication – The nf-core framework for community-curated bioinformatics pipelines

13th February 2020  -  Categories: Research & Development

Presenting a framework for high-quality bioinformatics pipelines that can be used across all institutions and research facilities.

Data & Methodology Publication – SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

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

Data & Methodology Publication – Cluster Flow: A user-friendly bioinformatics workflow tool

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.

Data & Methodology Publication – SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing

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.

Data & Methodology Publication – MultiQC: summarize analysis results for multiple tools and samples in a single report

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.