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  • Ingenuity Variant Analysis (IVA™)

    October 19, 2018 Release Notes

  • Table of Contents

    Release Highlights ................................................................................................................ 3

    Product Release Information ................................................................................................ 3

    Introduction to Ingenuity Variant Analysis ............................................................................ 4

    New Features ........................................................................................................................ 4

    Filter for CentoMD variants ...........................................................................................................4

    Sample IDs now added to the variant table export .......................................................................4

    Sample uploads tracking ...............................................................................................................5

    Sample uploads confirmation .......................................................................................................6

    Email notification of sample uploads and validation .....................................................................7

  • Release Highlights ➢ New CentoMD filter in the Predicted Deleterious filter

    ➢ Improved data analysis export

    ➢ Email notification of sample uploads and validation

    Product Release Information Product: Ingenuity Variant Analysis (IVA™)

    Release date: Oct 19, 2018

    IVA version: 5.3.20180919

    Content versions: CADD (v1.3), Allele Frequency Community (2018-05-25), EVS (ESP6500SI-

    V2), Refseq Gene Model (2018-07-10), JASPAR (2013-11), Ingenuity Knowledge Base

    Snapshot Timestamp (2018-09-07 08:32:26.0), Vista Enhancer (2012-07), Clinical Trials

    (Omaster-kb 180907.000), PolyPhen-2 (v2.2.2), 1000 Genome Frequency (phase3v5b), ExAC

    (0.3.1), iva (Sep 11 00:27 iva-1.0.718.jar), PhyloP (2009-11), DbSNP (151), TargetScan (6.2),

    GENCODE (Release 28), CentoMD (5.0), Ingenuity Knowledge Base (Omaster-kb

    180907.000), OMIM (May 26, 2017), gnomAD (2.0.1), BSIFT (2016-02-23), TCGA (2013-09-

    05), Clinvar (2018-08-01), DGV (2016-05-15), COSMIC (v86), HGMD (2018.3), SIFT4G (2016-

    02-23)

    Customer support: Contact us by e-mail at [email protected] or by phone at

    US: +1.650.381.5111 US Toll Free: +1.866.464.3684 Denmark Toll Free: +45 80 82 0167

    Additional information: Visit us online at https://www.qiagenbioinformatics.com/IVA

  • Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity

    Variant Analysis (IVA) is a software-as-a-service that makes it possible to filter millions of

    variants to only the disease-causing variants. Unlike other pipelines, it provides deeply

    curated knowledge to put the mutations into phenotypic and disease context. IVA was

    designed with the biologist in mind with no bioinformatics training required to formulate

    and test hypothesis in order to zero in on causal variants. IVA supports workflows for

    difficult to solve cases (exomes or genomes), trio- or family analysis, population studies,

    stratification studies, genetic biomarker discovery, and cancer analysis.

    New Features

    Filter for CentoMD variants

    In this release there is now the option for filter for CentoMD variants in the Predicted

    Deleterious filter.

    Sample IDs now added to the variant table export

    IVA now includes the sample IDs when you export the variants table. This feature is only

    available in the Export to Text option.

  • Sample uploads tracking

    With this release, you’ll now be able to see the available balance of your subscription

    upload limit.

    This new notification will show how many more samples you can upload to your IVA

    account based on your subscription license as well as your subscription end date.

  • Sample uploads confirmation

    IVA will now require explicit confirmation of sample uploads in order to confirm your

    ‘purchase’ of an uploaded sample(s). This gives the you the option to review and confirm

    the sample you wish to upload. Additional you have the option to receive an email

    “receipt” of your sample upload (see below).

    Should you have insufficient upload credits, your attempted samples upload will be

    rejected and you will be prompted to upload fewer samples.

  • Email notification of sample uploads and validation

    Starting with this release, IVA will send email confirmation of your sample upload and

    validation. These emails will act as a record of your sample uploads purchase.

    Should you wish to suspend these emails, you can do so via the Settings link.

  • To view the latest version of the underlying QIAGEN Knowledge Base, please click on the

    Content Versions link at the bottom of the page.