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R Gene Biosciences
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Unraveling gene expression patterns in pediatric germ cell tumors: a nanopore sequencing approach

Maximizing the power of genomic sequencing in pediatric rare disease Bioinformatics Human genomics

In this talk, Wendy Chung shares how her team at Boston Children's Hospital are using Oxford Nanopore sequencing to help uncover answers in unsolved, short-read negative rare disease cases.

 Accelerating cancer research through comprehensive genomic analysis

  • Cancer is a challenging multifactorial disease and the rapid advancement of sequencing technologies over the last two decades has revealed unprecedented insights into the genomic causes and implications of cancer. However, a vast proportion of cancers cannot be explained by simple point mutations detected using legacy short-read sequencing technologies. 
  • In this white paper, discover how Oxford Nanopore sequencing technology provides extensive analyses of structural variants, repeat regions, DNA/RNA methylation, cell-free and circulating tumour DNA (cfDNA and ctDNA), fusion genes and full-length transcript isoforms to truly understand cancer biology. 

In this white paper, you will: 

  • Learn the importance of cancer research and its recent developments 
  • Discover the limitations of legacy sequencing technologies 
  • Find out how Oxford Nanopore sequencing overcomes these limitations 
  • Read real-world case studies of how researchers are utilising Oxford Nanopore sequencing to deliver new insights into a wide range of cancers, including retinoblastoma, acute pediatric leukaemia, and hereditary cancer.

Download

  • Haplotype-resolved analysis of cancer genomes and epigenomes using Oxford Nanopore Sequencing.
  • Comprehensive identification of somatic and germline single nucleotide variants, structural and    copy number variants as well as epigenetic modifications (5mC and 5hmC) from a single dataset.

Download the poster to find out:

  • More about our end-to-end tumour-normal nanopore sequencing workflow
  • How it accurately identifies somatic single nucleotides and structural variation
  • How to jointly characterise genomic and epigenomic variants using a single dataset
  • More about genome-wide base-pair resolution 5mC and 5hmC profiling in cancer

Download

Reveal more cancer bıology wıth ultra-rıch Oxford Nanopore sequencıng data

Reveal more cancer bıology wıth ultra-rıch Oxford Nanopore sequencıng data

Reveal more cancer bıology wıth ultra-rıch Oxford Nanopore sequencıng data

  • The genetic underpinnings of cancer are diverse and many types of genomic aberration — from single nucleotide variants (SNVs) to structural variants (SVs), copy number variants (CNVs), fusion transcripts, and epigenetic modifications(e.g. 
  • DNA/RNA methylation) — can cause, contribute to, or indicate disease. As a result, researchers traditionally relied on multiple techniques to identify and analyse different facets of cancer.
  • Now, with Oxford Nanopore technology, researchers are going beyond next-generation sequencing (NGS), generating sequencing reads of any length, including ultra-long reads (>4 Mb achieved) that can span complex genomic regions. This, combined with integrated base modification detection and real-time results, means that nanopore oncology sequencing delivers a streamlined and rapid solution for complete characterisation of cancer and tumour samples.


Generate unprecedented ınsıghts for human genomıcs research

Reveal more cancer bıology wıth ultra-rıch Oxford Nanopore sequencıng data

Reveal more cancer bıology wıth ultra-rıch Oxford Nanopore sequencıng data

 

  • With real-time, multiomic Oxford Nanopore sequencing, you can discover previously hidden human genomic, epigenomic, and transcriptomic variation — from the population level down to the single-cell level.
  • Fully characterise challenging regions that cannot be resolved with legacy short-read sequencing technologies. Detect single nucleotide variants (SNVs), short tandem repeats (STRs), and DNA methylation, and generate highly contiguous genomes by spanning repeat regions and structural variants (SVs) — in one go. Furthermore, with RNA sequencing, interrogate full-length RNA transcript isoforms and identify RNA base modifications, such as methylation, as standard.
  • With Oxford Nanopore technology, there is no limit to read length (current record >4 Mb), allowing you to reveal critical insights for human genomics research — from developmental biology and rare disease genomics to common complex diseases.

Your all-ın-one genomıcs platform to uncover the mıcrobıal world.

Reveal more cancer bıology wıth ultra-rıch Oxford Nanopore sequencıng data

Your all-ın-one genomıcs platform to uncover the mıcrobıal world.


  • Fast and accurate identification and characterisation of microbes is vital to guide public health, food safety, and clinical research to prevent the spread of pathogenic microbes. 
  • With Oxford Nanopore sequencing, you can get access to real-time data and generate rapid insight to time-critical results, meaning you can make changes in real time and ensure each experiment runs with confidence.

ABOUT US

OUR MISSION

As R Gene Biosciences, we aim to provide innovative solutions in the field of biotechnology and provide the latest medical technologies according to the needs of our customers. We work for a sustainable future by contributing to human health and the environment. 

OUR VISION

Our vision is to implement safe, robust and effective solutions at the global scale with both national & international partners that we seek for the groundbreaking developments, highest level of quality services and rapid consequences. 

OUR VALUES

Transparency, innovation and sustainability are the core values ​​we embrace at R Gene Biosciences. These values ​​guide us in all our projects and business processes. 

Business Partners

Oxford Nanopore makes a novel generation of DNA/RNA sequencing technology that provides rich data, is fast, accessible and easy to use. Our goal is to disrupt the way that biological analyses are currently performed, and open up new applications that have a profound, positive impact on society.

The pocket-sized MinION is a powerful and portable sequencing device that can deliver high volumes of long read sequence data. The benchtop GridION can run up to five MinION Flow Cells at a time, on-demand, for larger genomics projects. PromethION is the largest format for nanopore sequencing, designed to offer on-demand use of up to 48 Flow Cells - capable of delivering more than 10 Tb of sequence data in a full run, and is now being used in population-scale sequencing projects. The palm sized PromethION 2 makes high-output nanopore sequencing broadly accessible.

Founded in 2018, Geneyx is driven by the belief that comprehensive genomic insights are essential for every patient’s care. Our mission is to transform the integration of genomics into healthcare and pharmaceutical research with our sophisticated data analysis platform. Serving a wide range of clients, including hospitals, genetics labs, and life-science companies, Geneyx offers unmatched precision in genetic analysis and research.

Geneyx Analysis is a leading solution for NGS interpretation and evaluation. This platform aims to allow clinicians and geneticists to harness genetic data within their current infrastructure and promote improved diagnosis and treatment options. Geneyx Analysis addresses all bioinformatic needs and has been shown to improve diagnostic yields and turnaround time. This technology is advancing the field of next-generation sequencing and is advancing the field of precision medicine. 


4bases is a Swiss based company with production facility in Italy. It was launched in 2013 to address increasing medical needs in the fields of prevention and precision medicine. 4bases is ISO13485:2016 certified company and works according to the European directive on in vitro diagnostic medical devices (CE – IVD). 

Solis BioDyne's production and product development takes place in a state-of-the-art laboratory, under the supervision of experienced scientists and technicians. In December 2007 Solis BioDyne acquired the ISO 9001 certificate and in November 2018 the ISO 13485 certificate. Strict production and quality control procedures enable to uphold highest quality standards. Product development is an ongoing process at Solis BioDyne – our portfolio is growing regularly. 

Since 1956 - for more than 60 years - HERMLE centrifuges are being sold to all parts of the world. Once a division of Berthold Hermle AG in Gosheim, HERMLE Labortechnik GmbH in Wehingen grew into an independent company with 50 employees after the end of 1993. The company has been part of the METTLER TOLEDO Group since July 1, 2022.

The whole production program has been entirely renewed during that time. 

Each unit stands for efficiency, versatility and easy handling. In the meantime our centrifuges are welcome in the fields of medicine, research and industry. 


Axygen products and solutions for genomics applications are offered through a wide portfolio of tools including: automation tips, PCR consumables, pipette tips, storage plates, sealing options, AxyPrep nucleic acid isolation kits and devices, and benchtop equipment. 


ATCC has been compelled by its deep-rooted mission to improve global public health through advancements in science. 

At its inception in the 1920s, ATCC was regarded as simply a microbe culture collection, a repository of microorganisms scientists could draw from to conduct their research to make new discoveries.

Today, ATCC provides the world’s leading scientists with the largest and most diverse collections of biological materials, including not only microbe products but also cell products, molecular genomics tools, and nucleic acids. 

CONTACT US

R Gene Biosciences

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R Gene Biosciences is ISO 13485 - ISO 9001 - SA 8000 - ISO 37001 certified

R Gene Biosciences is ISO 13485 - ISO 9001 - SA 8000 - ISO 37001 certified

R Gene Biosciences is ISO 13485 - ISO 9001 - SA 8000 - ISO 37001 certified

R Gene Biosciences is ISO 13485 - ISO 9001 - SA 8000 - ISO 37001 certified

R Gene Biosciences is ISO 13485 - ISO 9001 - SA 8000 - ISO 37001 certified

R Gene Biosciences is ISO 13485 - ISO 9001 - SA 8000 - ISO 37001 certified

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