1. AION guide
  2. AION - Instructions for Use

IFU version changelog

                                                        

Date

IFU version

AION

version

Changed page

Description of changes

January, 15th 2025

48

3.15.1.0

AION Results

Gene Coverage

Updated information for AION Smoking guns

Updated information for non-coding genes

 

December, 19th 2024

47

3.15.0.0

Data Sources

Overview of Cases

Gene Coverage

Data Update

Included Filtering by Status

Coverage information in the UI

November, 26th 2024

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

August, 7th 2024 45 3.13.0.0 Data sources

Overview of cases
Sources Update
Included Case Search functionality

July, 25th 2024

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

July, 19th 2024

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

July, 03rd 2024

42

3.12.1.1

AION Database - variant statistics

Extended the information for Case activation.

June, 24th 2024

41

3.12.1.0

Minimum IT Requirements

AION Database - variant statistics

Extension on the technical and IT. Page renamed

Case activation information 

May, 30th 2024

40

3.12.0.0

Data sources

Sources Update

May, 16th 2024

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

Apr, 25th 2024

38

3.11.0.0

AION Ranking

Manual filtering - CNVs

Data sources

Link to IGV explanation

Sources Update

Mar, 26th 2024

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.

Feb, 22nd 2024

36

3.9.5.0

Creating a Case

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

Feb, 21st 2024

35

3.9.5.0

VCF Format

Updated the infomation including support to combined vcf files.

Feb, 8th 2024

34

3.9.4.0

Manual filtering - Small Variants

Manual filtering - CNVs

Updated the information based on UX improvement to filtering

Jan, 19th 2024

33

3.9.3.0

General

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

Jan, 16th 2024

32

3.9.3.0

Advanced Filters

Added Warning

Jan, 15th 2024

31

3.9.3.0

AION ranking

Updated the screenshot and added note of g2d2moi source.

Dec 20th, 2023 30

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

Nov 29th, 2023

29

3.9.0.0

Data sources

Data versions updated

Nov 16th, 2023

28

3.8.5.0

Generating a report new page

New page added

Nov 6th, 2023

27

3.8.4.1

Data sources

Data versions updated

Oct 31th, 2023

26

3.8.4.0

Data sources

Data versions updated

Oct 26th, 2023

25

3.8.3.0

VCF format

Added list of supported CNV callers

Oct 17th, 2023

24

3.8.3.0

Data sources

Data versions updated

Oct 9th, 2023

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

21 3.8.0.0

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 AION ranking page updated regarding frequency and location
Internal variant database  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.

Aug 16th, 2023

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

Jul 14th, 2023 17

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. .

Jun 30th, 2023

16.1

3.6.0.0

VCF format

Removed INS as annotated CNV type

June 22th, 2023

16

3.6.0.0

Data sources

Updated data sources

June 8th, 2023

15

3.5.0.3

VCF format

Appended error codes section

May 26th, 2023

14

3.5.0.0

Create a new case form

Warning was added to recommend users to include phenotypic information

All pages IFU & AION version removed from the page header
IFU  version changelog IFU changelog introduced
AION - Instructions for Use Performance specification for small variants added

May 24th, 2023

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

Creating a case

Updated screenshot and refined instructions for data submission of small variants

Creating a case

Updated with information about how to submit CNV data

Case Information

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

Analysis Information

Page archived, information merged with Case information page

Data Sources

Updated to include information of CNV annotation data used

Run analysis

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

May 23rd, 2023

12

3.3.1.0

Variant type, genomic regions and sequencing technologies

Describe supported variant types, genomic regions and sequencing technologies

May 18th, 2023 11.5

3.3.1.0

AION - Instructions for Use

Updated AION and IFU versions

AION release notes

Added release notes

May 17th, 2023

11.4

3.3.1.0

AION - Instructions for Use

Updated AION and IFU versions

May 10th, 2023

11.3

3.3.0.0

AION - Instructions for Use

Improved use case description in AION and IFU versions

May 04th, 2023

11.2

3.3.0.0

Data sources

Update AION & rd-aion-wrapper versions

May 3rd, 2023 11.1

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

Apr 27th, 2023 11

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

Apr 26th, 2023

10.2

3.2.4.0

AION - Instructions for Use

Updated AION and IFU versions. Update heading format

Apr 21st, 2023

10.1

3.2.4.0

VCF format

Specifying file extension formats

Apr14th, 2023 10

3.2.4.0

AION - Instructions for Use

Updated AION and IFU versions and use case

AION ranking

Add internal variant database mention

Manual variant filtering - small variants

Add link to supported regions and VCF format

Internal variant database

Create page explaining internal variant database

Internal variant database details

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

Apr 12th, 2023

9.1

3.2.4.0

AION release notes

Added release notes

Mar 31st, 2023 9

3.2.3.0

AION - Instructions for Use

Updated AION and IFU versions

VCF format

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

AION requirements

Page creation. Adding children display

Variant type, genomic regions and sequencing technologies

Page creation

Mar 27h,  2023

8

3.2.3.0

AION - Instructions for Use

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

Mar 16th, 2023

7

3.2.3.0

Create a new case form

Adding reference genome requirement

AION release notes

Added release notes

Mar 14th, 2023

6.3

3.2.2.0

AION release notes

Amended last release notes

Mar 09th, 2023 6.2.

3.2.2.0

AION ranking

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

AION release notes

Added release notes

Overview of cases

Added case archiving functionality and trio icon

Mar 02nd, 2023

6.1

3.2.1.1

ACMG criteria

Remove PP4 from automated supporting criteria

Feb 20th, 2023

6.1

3.2.1.1

AION release notes

Added release notes. Amended last release notes

Feb 6th, 2023

6

3.2.1.0

VCF format

Add error codes. Update link to submit data page

AION release notes

Added release notes

Feb 03, 2023

5.3

3.2.0.4

Create a new case form

Adding note on the phenotype being immutable after submission

Feb 1st, 2023 5.2

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

Jan 27th, 2023

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

Jan 25th, 2023 5

3.2.0.3

AION release notes

Added release notes

Manual variant filtering - small variants

Create page explaining manual filtering

Jan 24th, 2023

4.1

3.2.0.2

AION release notes

Added release notes and reformat minor headings

Jan 23rd, 2023 4

3.2.0.2

AION - Instructions for Use

Added use case and contact information

Create a new case form

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

AION ranking

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

VCF format

Add supported data, VCF format and resources

Case results

Minor rephrasing

Anaysis information (archived)

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

AION release notes

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

ACMG criteria

Explain ACMG criteria and which ones are implemented in AION

Technical requirements

Page creation

Example use cases

Minor changes

Contact and legal information

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

User account

Minor rephrasing

Jan 20th, 2023

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

Jan 1th2, 2023

3.2

3.1.0

Case information

Minor rephrasing. HPOs are present in prioritiser file

Jan 11th, 2023 3.1

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

Dec 23rd, 2022 3

3.1.0

AION - Instructions for Use

Removed changelog to keep automated changelong

ACMG criteria

Removing internal comments

Run analysis (archived)

Removing internal comments

Additional variant information

Create page

Dec 22nd, 2022 2.3

3.1.0

AION - Instructions for Use

Added approved by to IFU changelog, changed formats and rephrasings

AION ranking

Removing internal comments

AION release notes

Removing internal comments

Manager screen

Removing internal comments

Dec 13th, 2022 2.2

3.1.0

Create a new case form

Removing internal comments

Annotation

Removing internal comments

Nov 23rd, 2022 2.1

3.1.0

Quality

Removing internal comments

Overview Cases

Removing internal comments
Nov 15th, 2022 2

3.1.0

AION - Instructions for Use

Added list of recently updated pages. Improved document versioning table

Case Information

Removing internal comments

VCF Format

Page creation

Analysing a case Page creation
Case results

Removing internal comments

Literature & Sources

Removing internal comments

Secondary analysis - best practices  Removing internal comments
User account 

Removing internal comments

Creating a case

Removing internal comments

Nov 08th, 2022

1.1

3.1.0

AION - Instructions for Use

Added table of contents

Sept 2nd, 2022 1

3.0.1

 

AION - Instructions for Use

Transfer user manual from Notion, restructure to fit Confluence

Contact and legal information 

Create page

June 2021

0

3.0.1

3.0.0

NA

User manual originally issued in Notion