Archive by Author | Jay Patel

BaseSpace Suite Summit

Join us for our BaseSpace® Suite Informatics Summit in Copenhagen, DK on 31 May and 1 June. Immediately after the European Society for Human Genetics (ESHG) annual meeting, attendance at the summit is FREE. Learn more about our informatics tools and how they’re designed to help you transform complex genomic data into meaningful insights quickly and easily.

basespace-suite-summit-copenhagen
Why attend a BaseSpace Suite Summit?

  • Share your perspectives on applying informatics tools in your lab
  • Attend informative sessions and learn how other customers use informatics
  • Get important product information for BaseSpace Clarity LIMS, BaseSpace Sequence Hub, BaseSpace Variant Interpreter (Beta), BaseSpace Cohort Analyzer, and BaseSpace Correlation Engine
  •  Learn best practices, including how an integrated approach to informatics can expedite workflows
  • Connect with your peers

Register here.

Learn more by clicking on the “Summit” dropdown above, or click here. 

 

BaseSpace Informatics Suite Summit 2016

transform-possibilities

You’re invited to an exclusive informatics event

Advancing Precision Medicine efforts relies on the ability to make sense of a growing body of genomic data. The need for robust informatics tools and an integrated approach when it comes to acquiring, storing, distributing, and analyzing data is essential.

Join us for our BaseSpace® Suite Summit in Rochester, MN on October 3 and 4. Taking place immediately before the Individualizing Medicine Conference, registration is free. Learn more about our informatics tools and how they’re designed to help you transform complex genomic data into meaningful insights quickly and easily.

  • Share your perspectives on applying informatics tools in your lab
  • Attend your choice of sessions on informatics topics
  • Learn best practices for laboratory information management, including how an integrated approach can expedite workflows
  • Connect with your peers

Venue and Format
Lodging and Summit activities take place at the Kahler Grand Hotel in Rochester, MN. All day sessions on October 3 and the morning of October 4 include a variety of hands-on, introductory, and training sessions.

More Information
If you have questions, please contact us.

register

Introducing Enrichment v3.0 with Enhanced Variant Calling

Enrichment

Enrichment v3.0

The new Enrichment v3.0 BaseSpace® App (formerly called Isaac Enrichment) introduces major improvements and new features including:

  • Improved small variant calling
  • Copy number variant (CNV) calling
  • Structural variant calling
  • Somatic/low-frequency variant calling
  • Ability to start from FASTQ or BAM
  • GRCh38 reference added
  • Variant table CSV file including variant frequencies
  • Improved variant annotation engine
  • Improved metrics engine

Read More…

Important Changes to the BaseSpace Sequence Hub Basic Tier Accounts

Early next week all BaseSpace Sequence Hub accounts will track storage and compute usage.

Our Basic tier users will continue to enjoy 1 Terabyte of storage for free. On top of that we’re crediting your account with 250 free iCredits to use over 30 days to make sure you have a chance to explore all the apps we offer*.

We offer several compute and storage options to fit your needs. Let us know if you’d like to learn more about BaseSpace Sequence Hub tiers.

* iCredits are used to pay for app  (compute and license fees) and additional storage charges. Any unused iCredits will expire at the end of this 30 day period.

Illumina Announces BaseSpace Correlation Engine Integration with Elsevier’s Pathway Studio

Accelerates discovery by demonstrating genetic functional relationships and validating results

 

Illumina and Elsevier R&D Solutions have announced a collaboration to integrate use of Pathway Studio, Elsevier’s database of experimental data and disease models, with Illumina’s BaseSpace Correlation Engine platform, offering them as one seamless solution. Under the terms of the agreement, all licensed Correlation Engine users have free access to Pathway Viewer, an application that enables researchers to quickly view a snapshot of the functional relationships among genes. In addition, researchers are able to find top scoring canonical pathways that correlate most highly with the genes list.

Correlation Engine is a suite of applications that lets users discover the relationships among their results, with billions of correlations derived from the world’s largest curated library of genomic knowledge. The applications contain over 130,000 experimental comparisons from more than a half million samples, drawn from NCBI’s Gene Expression Omnibus and other open-access or controlled-access databases.

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Human mtDNA Analysis in BaseSpace

Mitochondrial DNA (mtDNA) analysis enables forensic laboratories to extract genetic data from small biological samples, found in less than ideal condition. Mitochondria in humans cell contain about 1,000 copies of mtDNA. The ease-of-use of next-generation sequencing (NGS) and Nextera XT enables labs to speed up their workflow, reducing time and labor spent on prep, and generate deeper coverage data compared to Sanger sequencing at 1X coverage/rx.

The updated Illumina mtDNA demonstrated protocols provide a complete mitochondrial DNA solution – from targeted library prep and sequencing to bioinformatics analysis and report generation in BaseSpace – to help investigators draw conclusions in a straightforward and intuitive workflow.

The two new mtDNA apps in BaseSpace allow for variant analysis and easy visualization of mitochondrial sequence data. This workflow can analyze any part of the full circular genome, without any origin dead zone, using quality and coverage thresholds customized by the user (Figure 1).

Figure 1: mtDNA Analysis Workflow. Sequence data is streamed into BaseSpace. Initial processing is performed using the mtDNA Variant Processor app and the results are stored in your BaseSpace project. Use mtDNA Variant Analyzer to visualize the data and generate a downloadable Excel report.

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Introducing BaseSpace Professional!

The BaseSpace team is excited to introduce the BaseSpace Professional tier, which enables access to a host of new features and services, including:

  • Multi-user access with Workgroups
  • 8 hours of Bioinformatics Professional Services from Illumina
  • Expandable storage and compute credits

With BaseSpace Professional we are releasing a new Workgroup feature to enable seamless and efficient data sharing for you and your colleagues. Workgroups enable collaboration on a global scale.

Read More…