Archive by Author | Casey Geaney

Join us for our upcoming webinar

Join us for our upcoming webinar: High-volume sequence analysis with BaseSpace Sequence Hub and Edico DRAGEN apps, on Dec 13 at 10AM (PT)

The latest sequencing technologies enable unprecedented throughput and redefine limits for many labs. To adapt, these labs must redefine how they work – by automating tasks to reduce touchpoints and by simplifying workflows with integration and robust analysis tools.

In this webinar, we describe BaseSpaceSequence Hub and how the newest features support high throughput, high-volume sequencing. We demonstrate how customers can progress from flowcell loading to variant analysis with zero touchpoints by using the Whole Genome Sequencing or Edico DRAGEN apps. Additionally, we describe how the integration with BaseSpace Variant Interpreter enables users to interpret and generate reports of identified variants.

Register now

For Research Use Only. Not for use in diagnostic procedures.

 

Edico Genome’s DRAGEN Bio-IT Platform Now Available on BaseSpace® Sequence Hub

Removing the NGS Analytics Data Bottleneck with Field-Programmable Gate Arrays (FPGAs)

The following is a guest blog, written by our partners at Edico Genome.

The next-generation sequencing (NGS) analysis demand is growing at an exponential rate, creating a shortage of computing power to analyze the rapidly growing body of data. Current projections1 calculate genomic data to continue doubling every seven months, a stark acceleration in comparison to Moore’s Law, which states CPU capabilities will double every two years (Figure 1, below). The void left in-between creates a bottleneck for genomics labs.

Picture1

Figure 1

Providing an alternative to traditional CPU-based systems, Edico Genome’s DRAGEN™ (Dynamic Read Analysis for Genomics) Platform leverages FPGA (Field-Programmable Gate Array) technology to provide customers with hardware-accelerated implementation of genome pipeline algorithms. Leveraging FPGAs, DRAGEN allows customers to analyze NGS data at unprecedented speeds with extremely high accuracy2 onsite, in the cloud, or through a blended hybrid cloud.

BaseSpace Sequence Hub, hosted on Amazon Web Services, enables the cloud-based deployment of the Edico Genome DRAGEN pipeline. Edico Genome’s DRAGEN Genome Pipeline is now readily available, enabling rapid analysis of whole genome sequencing and targeted resequencing panels.

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Introducing TruSeq® Amplicon 3.0

Also co-authored by Eric Allen.

Recent advancements in the Illumina TruSeq Amplicon technology enable higher multiplexing of amplicons in a single assay. Combined with next-generation sequencing (NGS) from Illumina, NGS users can perform high throughput, high sensitivity genotyping experiments on Illumina Sequencers. The new TruSeq Amplicon 3.0 BaseSpace® Sequence Hub App introduces major improvements to support a variety of amplicon sequencing applications, including the recently launched TruSeq Genotype Ne product. TruSeq Genotype Ne is a fully customizable targeted genotyping by sequencing (GBS) solution. Key GBS features of TruSeq Amplicon 3.0 include:

  • Support for custom reference genomes, allowing a user to analyze amplicon data against their choice of FASTA file (previously uploaded to Sequence Hub).
  • Genotypes of Interest reporting, allowing a user to generate a tabular report of genotypes for each sample, which is analogous to genotyping array outputs.

Example usage of the Genotypes of Interest feature can be found in the example Project below. The Input VCF (variant call file) in this Project (found in the test_NA12878_GOI output files) can be used as a template and customized for use with other datasets.

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Advancing cancer research with new BaseSpace® Sequence Hub Apps 

Analyzing the genetic basis of a given tumor is important for understanding the progression of cancer and developing new methods of treatment. Cancer researchers use a variety of methods but none of them efficiently cover all of the variations present in our genes. To help researchers address this challenge, Illumina offers TruSight® Tumor 170, a next-generation sequencing (NGS) assay designed to cover 170 genes associated with cancer.

To help TruSight Tumor customers analyze data from this assay, we are excited to announce two new apps in BaseSpace Sequence Hub:

Additionally, we have made a significant update to the Tumor Normal app. All 3 apps expand our portfolio of cancer research applications by delivering advanced, new methods NGS data generation and analysis.

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