IFU version changelog

50.1

3.16.1.0

Introduction

Release Notes

• Updated UDI-PI information
• Highlight key updates and enhancements introduced in this AION version

50

3.16.0.0

Introduction

Release Notes

Data Sources

• Updated UDI-PI information
• Highlight key updates and enhancements introduced in this AION version
• Update on CNV annotation sources

49.2

3.15.1.7

Data Sources

Introduction

• Data Sources table format update
• Updated UDI-PI information

49.1

3.15.1.7

Introduction

Release Notes

• Updated the release date and UDI-PI related to the AION version
  
  
• Highlight key updates and enhancements introduced in this AION version

49

3.15.1.6

Introduction 

Safety Information

 Creating a Case

VCF Format 

Variant type, genomic regions and sequencing technologies

Data Sources

Release Notes

• Updated the release date and UDI-PI related to the AION version
• Updated general information about the manufacturer and product.
• Reorganized Product Description to clearly present Intended Use, Indications for Use, Intended Users, Operating Principle, Performance Characteristics, and Intended Environment. Updated and expanded Intended Use and related descriptions.
• Renamed “Product Performance” to “Performance Characteristics,” with added analytical and clinical data aligned with latest PER. Added justification for accepting CNV results slightly outside standard criteria.
• Added an Operating Principle subsection with guidance on VCF file preparation and input quality.
• Clarifications were added regarding the limitations of the device.
• Added a new section on limitations, contraindications, precautions, and warnings. Clarified limitations, including those related to pharmacogenetics and somatic variants. Expanded content on risks of excluding HPO terms due to impact on diagnostic accuracy.
• Revised User training section to align with AION’s SSP.
• Updated content to reflect new clarifications and limitations.
• Clarified where to access the SSP.
• Added an information box on the importance of HPO terms, especially for CNV analysis.
• Extended information regarding to vcf preparation
• Sequencing technologies information updated
• Minor typographical corrections were made, and broken links were fixed
• Highlight key updates and enhancements introduced in this AION version

48

3.15.1.0

AION Results

Gene Coverage

• Updated information for AION Smoking guns
• Updated information for non-coding genes

47

3.15.0.0

Data Sources

Overview of Cases

Gene Coverage

• Data Update
• Included Filtering by Status
• Coverage information in the UI

46

3.14.0.0

Case Information

AION Results

AION Variant Cards

• Gene coverage information added
• Included information on AION  smoking guns and AION clues
• New page containing the general information on AION cards. Previously described in AION Results page

• Sources Update
• Included Case Search functionality

44

3.12.3.0

Data sources

Additional Variant Information

AION Ranking

General

• Sources Update
• Updated information including gnomAD v4.1.0
• Expanded information on inheritance.
• Addition of clickable flows of the main features and functionalities

43

3.12.2.2

VCF Contents - secondary analysis best practices

• Expanded the secondary analysis best practices to cover CNV VCFs and moved the article to AION requirements

42

3.12.1.1

AION Database - variant statistics

• Extended the information for Case activation.

41

3.12.1.0

Minimum IT Requirements

AION Database - variant statistics

• Extension on the technical and IT. Page renamed
• Case activation information 

40

3.12.0.0

Data sources

• Sources Update

39

3.11.1.0

Overview of cases

AION Database - variant statistics

AION Database - variant classifications

Manual filtering - CNVs

General

• Explained "Refresh" functionality
• Mention to classifcation categories.
• Improved CNV associated disease description
• Screenshots update

38

3.11.0.0

AION Ranking

Manual filtering - CNVs

Data sources

• Link to IGV explanation
• Sources Update

37

3.10.0.0

Introduction

Generating a Report

AION Ranking

Additional Variant Information

AION Database - variant statistics
AION Database - variant classifications
AION Database - onboarding

• Inclusion of Unique Device Identification (UDI)
• Improved description of the device indications of use.
• Performance claims information improved
• Update information to match the user interface changes.
• Generation of 3 new pages for AION DB.

36

3.9.5.0

Creating a Case

• Added a note to highlight how to submit merged vcf files.

35

3.9.5.0

VCF Format

• Updated the infomation including support to combined vcf files.

34

3.9.4.0

Manual filtering - Small Variants

Manual filtering - CNVs

• Updated the information based on UX
• improvement to filtering

33

3.9.3.0

General

• Content restructure. Minor changes in content to adapt to the updated estructure of the IFU.

32

3.9.3.0

Advanced Filters

• Added Warning

31

3.9.3.0

AION ranking

• Updated the screenshot and added note of g2d2moi source.

3.9.2.0

Manual filtering - CNVs

• Updated manual filtering page

Manual variant filtering - small variants

• Updated manual filtering pages

Advanced filters new page

• Created a new page for Advanced filters

29

3.9.0.0

Data sources

• Data versions updated

28

3.8.5.0

Generating a report new page

• New page added

27

3.8.4.1

Data sources

• Data versions updated

26

3.8.4.0

Data sources

• Data versions updated

25

3.8.3.0

VCF format

• Added list of supported CNV callers

24

3.8.3.0

Data sources

• Data versions updated

23

3.8.2.0

Data sources

• Data versions updated

Oct 2nd, 2023

22

3.8.1.0

Case information

• Added information about the possible patient symptoms editing on case page.

Overview of cases

• Changed Results overview page name to Overview of cases. Added information of the new case status Updating.

Creating a case 

• Changed Submit data page name to Creating a case to better reflect the workflow

Analysing a case

• Changed Results page name to be Analysing a case to better reflect the workflow

Run analysis

• ARCHIVED

Create a new case form

• Combined relevant info from Run analysis page to Create a new case form page. Archived Run analysis page. 

Sep 19th, 2023

Data Sources

• Data versions updated

VCF Format

• Relevant variant definition updated

Creating a Case

• Removed CI usage in CNV annotation

Creating a Case form

• Submit data page updated

Run analysis (Ar chived)

• Run analysis page updated

Case Information

• Case information page regarding for reference genome

• AION ranking page updated regarding frequency and location

• Internal variant database page updated regarding reference genome. Warning added.

Sep 1st, 2023

20

• 3.7.1.0

VCF format

• Moved information from VCF format page to Troubleshooting page
• Relevant variant definition added to VCF format definition.

Troubleshooting

•  Troubleshooting page created

Manual filtering - CNVs

• Added info on CNV annotation CI usage by AION.

19

3.7.0.0

Example use cases

• Added new example case with CNVs and updated the page

Aug 11th, 2023

18

3.7.0.0

VCF format

• Added new page Manual filtering - CNVs

Manual variant filtering - small variants

• Changes the name of the page Manual variant filtering - small variants

Manual filtering - CNVs

• Updated information about annotated variants and added information about high quality CNV variants

Data sources

• Updated data sources

3.6.0.2

AION - Instructions for Use

• General review and reorganization of front page of IFU, improving product description, and product performance as well as indications for Safety Information. Reorganization of table of contents of the IFU, without affecting the information content. 

Safety Information

• Safety information has been translated to applicable EU state members official languages in a new Safety Information Section. .

16.1

3.6.0.0

VCF format

• Removed INS as annotated CNV type

16

3.6.0.0

Data sources

• Updated data sources

15

3.5.0.3

VCF format

• Appended error codes section

May 26th, 2023

3.5.0.0

Create a new case form

• Warning was added to recommend users to include phenotypic information

• IFU & AION ver sion removed from the page header

• IFU changelog introduced

• Performance specification for small variants added

13.1

3.3.1.0

Overview of cases

• Rephrased archiving functionality to delete

May 23rd, 2023

13

3.4.0.0

VCF format

• Added CNV VCF requirements and reformatted page

• Updated screenshot and refined instructions for data submission of small variants

• Updated with information about how to submit CNV data

• Updated to reflect the changes related downloading CNVs results files as well as general case information UI improvements

• Page archived, information merged with Case information page

• Updated to include information of CNV annotation data used

• Adapted to the new upload UI, and warning added to warn user to not leave upload page before upload has finished.

12

3.3.1.0

Variant type, genomic regions and sequencing technologies

• Describe supported variant types, genomic regions and sequencing technologies

3.3.1.0

AION - Instructions for Use

• Updated AION and IFU versions

AION release notes

• Added release notes

11.4

3.3.1.0

AION - Instructions for Use

• Updated AION and IFU versions

11.3

3.3.0.0

AION - Instructions for Use

• Improved use case description in AION and IFU versions

11.2

3.3.0.0

Data sources

• Update AION & rd-aion-wrapper versions

3.3.0.0

AION - Instructions for Use

• Updated AION and IFU versions

Internal variant database

• Remove mention of internal variant database columns in manual filtering

3.3.0.0

AION - Instructions for Use

• Updated AION and IFU versions

AION release notes

• Added and amended release notes

Annotations

• Add NMD boundaries, dbscSNV ADA, dbscSNC RF scores. Edit NMD

Data sources

• Create page and minor page reformatting

10.2

3.2.4.0

AION - Instructions for Use

• Updated AION and IFU versions. Update heading format

10.1

3.2.4.0

VCF format

• Specifying file extension formats

3.2.4.0

AION - Instructions for Use

• Updated AION and IFU versions and use case

AION ranking

• Add internal variant database mention

• Add link to supported regions and VCF format

• Create page explaining internal variant database

• Create page redirecting the user to the internal variant DB documentation+

9.1

3.2.4.0

AION release notes

• Added release notes

3.2.3.0

AION - Instructions for Use

• Updated AION and IFU versions

• Added info panel on gVCF and multisample VCFs. Added mention warning against splitting VCFs into chromosomes. Changed headings format. Moved supported data elsewhere

• Page creation. Adding children display

• Page creation

8

3.2.3.0

AION - Instructions for Use

• Added product identification, product labeling, AION version and IFU version

Mar 16th, 2023

3.2.3.0

Create a new case form

• Adding reference genome requirement

AION release notes

• Added release notes

6.3

3.2.2.0

AION release notes

• Amended last release notes

3.2.2.0

AION ranking

• Improve variant-disease card description: reorder items, split zygosity and segregation

• Added release notes

• Added case archiving functionality and trio icon

6.1

3.2.1.1

ACMG criteria

• Remove PP4 from automated supporting criteria

6.1

3.2.1.1

AION release notes

• Added release notes. Amended last release notes

Feb 6th, 2023

3.2.1.0

VCF format

• Add error codes. Update link to submit data page

AION release notes

• Added release notes

5.3

3.2.0.4

Create a new case form

• Adding note on the phenotype being immutable after submission

3.2.0.4

AION release notes

• Added release notes. Amended last release notes

Example use cases

• Updated link to mother of example case 4

5.1

3.2.0.3

Annotations

• Amend mention of propietary ML model. It was wrongly added to SIFT. Format subscores list, mention propietary ML model, inform users about how to interpret values for predictors

3.2.0.3

AION release notes

• Added release notes

Manual variant filtering - small variants

• Create page explaining manual filtering

4.1

3.2.0.2

AION release notes

• Added release notes and reformat minor headings

3.2.0.2

AION - Instructions for Use

• Added use case and contact information

• Adding in silico panels and secondary findings filter, rephrasing, moving family information, adding screenshots for HPO input

• Rephrasing, move AION rank and variant classification, explain ACMG criteria can be modified by the user, describe goal of AION ranking, change format of filreing headings

• Add supported data, VCF format and resources

• Minor rephrasing

• Page creation to explain reference genome used and in silico panels applied to the case

• Added release notes and noting that annotation sources are tracked elsewhere. Adjusting headings. Removing wrong heading and table of contents

• Explain ACMG criteria and which ones are implemented in AION

• Page creation

• Minor changes

• Add more contact details and availability and data management information. Add info panel regarding incidents

User account

• Minor rephrasing

3.3

3.2.0.1

AION release notes

• Added release notes and noting that annotation sources are tracked elsewhere. Reverting to previous version to reformat content

3.2

3.1.0

Case information

• Minor rephrasing. HPOs are present in prioritiser file

3.1.0

Example use cases

• Removing internal comments. Rephrased instructions on sex, date of birth and entering HPO terms

Creating a case

• Specify drag & drop method

3.1.0

AION - Instructions for Use

• Removed changelog to keep automated changelong

• Removing internal comments

• Removing internal comments

• Create page

3.1.0

AION - Instructions for Use

• Added approved by to IFU changelog, changed formats and rephrasings

• Removing internal comments

• Removing internal comments

• Removing internal comments

3.1.0

Create a new case form

• Removing internal comments

• Removing internal comments

3.1.0

Quality

• Removing internal comments

Overview Cases

• Removing internal comments

3.1.0

• Added list of recently updated pages. Improved document versioning table

• Removing internal comments

VCF Format

• Page creation

• Page creation

• Removing internal comments

• Removing internal comments

• Removing internal comments

• Removing internal comments

• Removing internal comments

1.1

3.1.0

AION - Instructions for Use

• Added table of contents

3.0.1

AION - Instructions for Use

• Transfer user manual from Notion, restructure to fit Confluence

Contact and legal information 

• Create page

0

3.0.1

3.0.0

• User manual originally issued in Notion