Latest improvements for Ingenuity Variant Analysis

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Ingenuity Variant Analysis (IVA) Spring 2019 Release

 

Now you can include even more metadata and variant types in your IVA analyses

  The IVA Spring 2019 Release offers expanded analyses parameters to improve your analyses. As of April 14, 2019, IVA includes the following new features:
    • Updated VCF parser to capture additional upstream metadata

IVA will now parse more information from VCF headers to capture experiment and sequencing run metadata. Specific header formats must conform to the following format where ##<header tag> -> is followed by pipeline metadata:

##fileDate -> ING:variantFileDate

##source -> ING:variantFileSource

##workflow_type -> ING:workflowType

##workflow_version -> ING:workflowVersion

##cmdline -> ING:variantCmdLine

For CGI files the following header tags are supported:

#GENERATED_BY -> ING:variantFileSource #GENERATED_AT -> ING:variantFileDate

 
  • Updated VCF parser to capture additional variant types

While IVA has always supported CNV, it will now also support fusions.  This requires:

##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">

Where Type of structural variant includes (case sensitive):

Fusion – fusion

BND – breakend

DUP - duplication

DEL – deletion

Please consult IVA documentation here for further details

  • Phenotype driven ranking now an option in the Analysis Creation Wizard

We have now provided the option to select the Phenotype Driven Ranking as part of the Analysis creation. This option is only available where valid phenotype terms are applied in the Biological Context box.

 
  • Deprecation of hg18 from IVA experts US-based IVA

In an effort to better server IVA users world-wide, we have removed support for hg18 on IVA datacenters outside the USA.  This will increase performance of non-USA datacenters.  If you plan to upload samples based on the hg18 human reference, please contact Support to ensure you are uploading such samples to the USA-based IVA datacenter.


Updated content

The IVA Spring 2019 Release contains the following content: HGMD v2018.4 PGMD v2018.1 DbSNP v151 AFC v2018-05-22 To view the latest version of the underlying QIAGEN Knowledge Base, please click on the Content Versions link at the bottom of the page.                      
    For more information about IVA and the Spring 2019 Release, visit our Resources page.

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