ELLA documentation

# UI/UX

NOTE

This documentation is a work in progress and is incomplete.

Please contact developers for more details.

Configuration related to the user interface and user experience in ELLA. Most are defined as default settings for all users, but some settings may be overridden by user group specific settings.

# Configure elements to show

Configure user interface elements for different pages. See example_config.yml (opens new window) for examples.

# OVERVIEW and INFO page

Define defaults view on OVERVIEW and INFO pages for all users, or per user group.

Default settings for all users (overridden by any group settings) are configured in:

  • File: ella_config.yml (set by ELLA_CONFIG env variable)
  • Key: user.user_config.overview

User group settings are configured in:

  • File: usergroups.json (see user groups)
  • Key: config.overview
Subkey Explanation Values
views Tabs to show on the OVERVIEW page. variants: Variant centered workflow;
analyses-by-findings: Sample centered workflow, grouped by the findings in the analysis;
import: Manual import
show_variant_report Show/hide externally generated variant report on INFO page. true/false

See usergroups.json (opens new window) for examples.

# Priority

Define how to display priority values from pipeline.

  • File: ella_config.yml (set by ELLA_CONFIG env variable)
  • Key: analysis.priority.display
  • Value: Examples: "1": "Normal", "2": "High", ...

Define side bar content for different views in ANALYSES workflows: full, quick, visual, report, list.

  • File: ella_config.yml (set by ELLA_CONFIG env variable)
  • Key: analysis.sidebar.[view]
Subkey Explanation Values
columns Define which columns to show. [Depending on annotation.]
classification_options Define how to group different classifications (existing/current).
comment_type Define which comment field to show. None, analysis, evaluation
shade_multiple_in_gene Apply background shade to variants if there are more than one in the same gene. true / false

# Comment field templates

It is possible to define templates for most comment fields in ELLA, which are available to add for the user in the text format menu. This is a user group specific setting, see usergroups.json (opens new window) for examples.

Templates can be defined as pure text or with basic html formatting in:

  • File: usergroups.json (see user groups)
  • Key: config.comment_templates
Subkey Explanation Values
name Provide a name for the template [text]
comment_fields Defines where (which comment fields) the template should be available. classificationAnalysisSpecific,
classificationEvaluation,
classificationAcmg,
classificationReport,
classificationFrequency,
classificationPrediction,
classificationExternal,
classificationReferences,
reportIndications,
reportSummary,
referenceEvaluation,
workLogMessage
template Specifies the template [pure text or basic html]

# IGV and tracks in VISUAL

Configuration of IGV and tracks shown in VISUAL mode.

# General IGV configuration

General configuration of IGV; see example_config.yml (opens new window) for examples.

  • File: ella_config.yml (set by ELLA_CONFIG env variable)
  • Key: igv
Subkey Explanation
reference Define what to show as reference data.
valid_resource_files Files permitted accessible on /igv/<file> resource, relative to $IGV_DATA env.

All tracks and types have sensible configuration values, so configuration files are not strictly necessary. The default values are merged from the default values in src/api/v1/resources/igvcfg.py and the default values in igv.js (opens new window), with the former taking precedence.

# Types of tracks in VISUAL

Tracks shown in ELLA VISUAL are of three types: DYNAMIC, STATIC and ANALYSIS tracks.

  • Four built-in, DYNAMIC tracks are available:

    File path Description
    DYNAMIC/variants Shows the unfiltered variants in the analysis
    DYNAMIC/classifications Shows the existing classifications from the database
    DYNAMIC/genepanel Shows the transcripts defined in the gene panel
    DYNAMIC/regions_of_interest Shows unfiltered variants as regions of interest

  • STATIC tracks can be added as files to the folder $IGV_DATA/tracks, with path configured as STATIC/<filename>.

  • ANALYSIS tracks are any track imported together with the analyses. with path configured as ANALYSIS/<filename>.

# Supported track formats

The following track formats are supported:

Track type Index file
.bam .bam.bai, .bai
.bed -
.bed.gz .bed.gz.tbi
.bigBed / .bb -
.bigWig / .bw -
.cram .cram.crai, .crai
.gff3.gz .gff3.gz.tbi
.gtf.gz .gtf.gz.tbi
.vcf -
.vcf.gz .vcf.gz.tbi

NOTE

For best performance, we recommend using index and gzipped files whenever applicable.

# Track configuration

Configuration of tracks is done using a single JSON file ($IGV_DATA/track_config.json; if no configuration is specified, track_config_default.json will be used). The keys of the configuration file are regular expressions (regex) that match file paths (see above). If a file path is matched by multiple regexes, their entries are merged (with the order defined by the position within the config file).

NOTE

When writing regex for file paths, note that the JSON format requires all characters with regex functions to be double-escaped using \\. E.g., .bed.gz should be written as \\.bed\\.gz.

Each entry of the config file supports these fields:

Field Description Values
limit_to_groups Controls access to the track. If one or more user groups are listed here, only those user groups will see the tracks, otherwise (null) all users will have access. [user groups; list] or null
presets Define which preset(s) the track should belong to. Tracks that are found, available and have no associated preset (including Default) are available in the UI under the preset Other. [preset name(s); list]
show Define whether the track should belong to the Default preset, which is turned on by default when loading VISUAL for a new analysis (all other tracks are turned off and must be switched on manually). true/false
type When roi, the track will be displayed as a region of interest (opens new window) (e.g. useful for marking the region of a variant). roi/null
url A template URL to retrieve the track. The URL will be used for igv.js (igv.url) [URL template]
description Track description, shown when hovering over the track selector button. See Track selection (opens new window)
igv Supports all the configuration values of igv.js. The value for name will be the track's ID, if not set explicitly. See igv.js Tracks 2.0 (opens new window)

# Auto-text in REPORT

Configure text to include automatically for different classifications on the REPORT page. See example_config.yml (opens new window) for examples.

  • File: ella_config.yml (set by ELLA_CONFIG env variable)
  • Key: report.classification_text
  • Value: "[class]": "[text]"

# Workflows

# Finalize requirements

Define default requirements for finalizing a workflow for all users. Values will be used unless overridden by user group specific settings. See example_config.yml (opens new window) for examples.

  • File: ella_config.yml (set by ELLA_CONFIG env variable)
  • Key: user.user_config.workflows

Separate settings are given for subkeys allele.finalize_requirements (VARIANTS workflows) and analysis.finalize_requirements (ANALYSES workflows):

Workflow Subkey Explanation Values
allele or analysis workflow_status Workflow statuses allowing finalization. [list of statuses]
analysis allow_unclassified Allow unclassified variants when finalizing. True / False

# Disallow start (read-only access)

Define if users can start an analysis and/or variant interpretation workflow. If set to false, users can only view and not make changes to analyses and/or stand-alone variant interpretations. Note however, that it's still possible to make changes in the Work log (add comments and/or change priority).

  • File: ella_config.yml (set by ELLA_CONFIG env variable)
  • Key: user.user_config.workflows

Separately set for subkeys allele (VARIANTS workflows) and analysis (ANALYSES workflows):

Workflow Subkey Explanation Values
allele or analysis can_start Allow user to start interpretation or analysis, respectively. True (default) / False

# Define references as IGNORED

Certain references retrieved from annotation sources such as ClinVar are generic and do not contain information relevant for any particular variant classification per se (an example is the ACMG guidelines (opens new window)). These references can be set to be automatically IGNORED in the reference evaluation module.

This is a user group specific setting, see usergroups.json (opens new window) for examples. PubMed IDs to be ignored should be added in:

  • File: usergroups.json (see user groups)
  • Key: interpretation.autoIgnoreReferencePubmedIds
  • Value: [list of PubMedIDs (integers)]
Last Updated: 3/26/2024, 9:21:52 AM

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