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Ingenuity Variant Analysis (IVA™) October 19, 2018 Release Notes

Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

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Page 1: Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

Ingenuity Variant Analysis (IVA™)

October 19, 2018 Release Notes

Page 2: Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

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

Page 3: Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

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

Page 4: Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

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.

Page 5: Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

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.

Page 6: Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

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.

Page 7: Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

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.

Page 8: Ingenuity Variant Analysis (IVA - Qiagen...Introduction to Ingenuity Variant Analysis For laboratories in translational and discovery exome or genome research, Ingenuity Variant Analysis

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

Content Versions link at the bottom of the page.