Date |
IFU version |
AION version |
Changed page |
Description of changes |
---|---|---|---|---|
January, 15th 2025 |
48 |
3.15.1.0 |
Updated information for AION Smoking guns Updated information for non-coding genes
|
|
December, 19th 2024 |
47 |
3.15.0.0 |
Data Update Included Filtering by Status Coverage information in the UI |
|
November, 26th 2024 |
46 |
3.14.0.0 |
Gene coverage information added
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 |
Additional Variant Information
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 |
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 |
Extended the information for Case activation. |
|
June, 24th 2024 |
41 |
3.12.1.0 |
Extension on the technical and IT. Page renamed Case activation information |
|
May, 30th 2024 |
40 |
3.12.0.0 |
Sources Update |
|
May, 16th 2024 |
39 |
3.11.1.0 |
AION Database - variant statistics AION Database - variant classifications General |
Explained "Refresh" functionality Mention to classifcation categories. Improved CNV associated disease description Screenshots update |
Apr, 25th 2024 |
38 |
3.11.0.0 |
Link to IGV explanation Sources Update |
|
Mar, 26th 2024 |
37 |
3.10.0.0 |
Additional Variant Information AION Database - variant statistics |
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 |
Added a note to highlight how to submit merged vcf files. |
|
Feb, 21st 2024 |
35 |
3.9.5.0 |
Updated the infomation including support to combined vcf files. |
|
Feb, 8th 2024 |
34 |
3.9.4.0 |
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 |
Added Warning |
|
Jan, 15th 2024 |
31 |
3.9.3.0 |
Updated the screenshot and added note of g2d2moi source. |
|
Dec 20th, 2023 | 30 |
3.9.2.0 |
Updated manual filtering page |
|
Updated manual filtering pages |
||||
Advanced filters new page |
Created a new page for Advanced filters |
|||
Nov 29th, 2023 |
29 |
3.9.0.0 |
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 versions updated |
|
Oct 31th, 2023 |
26 |
3.8.4.0 |
Data versions updated |
|
Oct 26th, 2023 |
25 |
3.8.3.0 |
Added list of supported CNV callers |
|
Oct 17th, 2023 |
24 |
3.8.3.0 |
Data versions updated |
|
Oct 9th, 2023 |
23 |
3.8.2.0 |
Data versions updated |
|
Oct 2nd, 2023 |
22 |
3.8.1.0 |
Added information about the possible patient symptoms editing on case page. |
|
Changed Results overview page name to Overview of cases. Added information of the new case status Updating. |
||||
Changed Submit data page name to Creating a case to better reflect the workflow |
||||
Changed Results page name to be Analysing a case to better reflect the workflow |
||||
Run analysis |
ARCHIVED |
|||
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 versions updated |
|
Relevant variant definition updated |
||||
Removed CI usage in CNV annotation |
||||
Submit data page updated |
||||
Run analysis (Ar chived) |
Run analysis page updated |
|||
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 |
Moved information from VCF format page to Troubleshooting page Relevant variant definition added to VCF format definition. |
|
Troubleshooting page created |
||||
Added info on CNV annotation CI usage by AION. |
||||
Aug 16th, 2023 |
19 |
3.7.0.0 |
Added new example case with CNVs and updated the page |
|
Aug 11th, 2023 |
18 |
3.7.0.0 |
Added new page Manual filtering - CNVs |
|
Changes the name of the page Manual variant filtering - small variants |
||||
Updated information about annotated variants and added information about high quality CNV variants |
||||
Updated data sources |
||||
Jul 14th, 2023 | 17 |
3.6.0.2 |
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 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 |
Removed INS as annotated CNV type |
|
June 22th, 2023 |
16 |
3.6.0.0 |
Updated data sources |
|
June 8th, 2023 |
15 |
3.5.0.3 |
Appended error codes section |
|
May 26th, 2023 |
14 |
3.5.0.0 |
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 |
Rephrased archiving functionality to delete |
|
May 23rd, 2023 |
13 |
3.4.0.0 |
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 |
Describe supported variant types, genomic regions and sequencing technologies |
|
May 18th, 2023 | 11.5 |
3.3.1.0 |
Updated AION and IFU versions |
|
Added release notes |
||||
May 17th, 2023 |
11.4 |
3.3.1.0 |
Updated AION and IFU versions |
|
May 10th, 2023 |
11.3 |
3.3.0.0 |
Improved use case description in AION and IFU versions |
|
May 04th, 2023 |
11.2 |
3.3.0.0 |
Update AION & rd-aion-wrapper versions |
|
May 3rd, 2023 | 11.1 |
3.3.0.0 |
Updated AION and IFU versions |
|
Remove mention of internal variant database columns in manual filtering |
||||
Apr 27th, 2023 | 11 |
3.3.0.0 |
Updated AION and IFU versions |
|
Added and amended release notes |
||||
Add NMD boundaries, dbscSNV ADA, dbscSNC RF scores. Edit NMD |
||||
Create page and minor page reformatting |
||||
Apr 26th, 2023 |
10.2 |
3.2.4.0 |
Updated AION and IFU versions. Update heading format |
|
Apr 21st, 2023 |
10.1 |
3.2.4.0 |
Specifying file extension formats |
|
Apr14th, 2023 | 10 |
3.2.4.0 |
Updated AION and IFU versions and use case |
|
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 |
Added release notes |
|
Mar 31st, 2023 | 9 |
3.2.3.0 |
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 |
Added product identification, product labeling, AION version and IFU version |
|
Mar 16th, 2023 |
7 |
3.2.3.0 |
Adding reference genome requirement |
|
Added release notes |
||||
Mar 14th, 2023 |
6.3 |
3.2.2.0 |
Amended last release notes |
|
Mar 09th, 2023 | 6.2. |
3.2.2.0 |
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 |
Remove PP4 from automated supporting criteria |
|
Feb 20th, 2023 |
6.1 |
3.2.1.1 |
Added release notes. Amended last release notes |
|
Feb 6th, 2023 |
6 |
3.2.1.0 |
Add error codes. Update link to submit data page |
|
Added release notes | ||||
Feb 03, 2023 |
5.3 |
3.2.0.4 |
Adding note on the phenotype being immutable after submission |
|
Feb 1st, 2023 | 5.2 |
3.2.0.4 |
Added release notes. Amended last release notes |
|
Updated link to mother of example case 4 |
||||
Jan 27th, 2023 |
5.1 |
3.2.0.3 |
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 |
Added release notes |
|
Create page explaining manual filtering |
||||
Jan 24th, 2023 |
4.1 |
3.2.0.2 |
Added release notes and reformat minor headings |
|
Jan 23rd, 2023 | 4 |
3.2.0.2 |
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 |
|||
Minor rephrasing |
||||
Jan 20th, 2023 |
3.3 |
3.2.0.1 |
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 |
Minor rephrasing. HPOs are present in prioritiser file |
|
Jan 11th, 2023 | 3.1 |
3.1.0 |
Removing internal comments. Rephrased instructions on sex, date of birth and entering HPO terms |
|
Specify drag & drop method |
||||
Dec 23rd, 2022 | 3 |
3.1.0 |
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 |
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 |
Removing internal comments |
|
Annotation |
Removing internal comments |
|||
Nov 23rd, 2022 | 2.1 |
3.1.0 |
Removing internal comments |
|
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 |
|||
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 |
Added table of contents |
|
Sept 2nd, 2022 | 1 |
3.0.1
|
Transfer user manual from Notion, restructure to fit Confluence |
|
Create page | ||||
June 2021 |
0 |
3.0.1 3.0.0 |
NA |
User manual originally issued in Notion |