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Import and the AlphaVarSet object

An AlphaGenome CSV becomes a typed object; every other function takes that object and returns an updated one.

av_import_csv()
Import AlphaGenome Results
av_set_active_score()
Set Active Score Type
av_get_scores()
Extract Active Score Vector
av_overview_summary()
Generate Data-Overview Summary
av_overview_breakdown()
Per-Element Breakdown for a Column
print(<AlphaVarSet>)
Print method for AlphaVarSet
print(<AlphaVarOverview>)
Print method for AlphaVarOverview
print(<AlphaVarReportSpec>)
Print an AlphaVarReportSpec

Annotation

Attach gene and region context to the scored tracks.

av_annotate_genes()
Annotate Variants with Nearest Gene and High-Resolution Genomic Context
av_annotate_regions()
Annotate Variants with Custom Regions (e.g., HARs)

Localization tests

Where does the effect stand out? Each returns a p-value with an effect size, Benjamini-Hochberg corrected, written to $stats$comparisons.

av_calc_enrichment()
Calculate Fisher Enrichment Statistics
av_compare_groups()
Compare Groups: Multi-Group Differential Analysis Engine
av_compare_against_reference()
Compare Against Reference: Many-to-One Differential Analysis
av_compare_target()
Compare One Element vs Rest (Distributional One-vs-Rest Wilcoxon)
av_calc_shift()
Score Shift Sweep: Every Element vs Rest (One-vs-Rest Wilcoxon)

Descriptive metrics

How large, how typical, how concentrated is the effect? Summaries and the specificity index, without a test.

av_summarize()
Summarize an AlphaVarSet by Arbitrary Grouping
av_calc_specificity()
Calculate Effect Specificity Across a Variable
av_element_summary()
Per-Element Statistical Summary Across One Variable

Prioritization and target genes

Which variant should be followed up, and which gene does it act on?

av_prioritize()
Prioritize Variants by Transparent Multi-Criteria Ranking
av_map_targets()
Map Each Variant to a Target Gene (Two-Tier V2G Annotation)

Data operations

Choose the slice to ask about. These change the data basis and therefore reset cached statistics.

av_subset()
Subset an AlphaVarSet Object
av_get_top()
Get Top Entries or Genes
av_as_subsets()
Split AlphaVarSet into Subsets by Group
av_tag_cohort()
Tag filtered variants as a named cohort
av_recode_groups()
Recode Groups for Comparison Analysis
av_get_intersection()
Get Intersection of Top Elements Across N Groups
av_get_filter_history()
Get Filter History as a Data Frame
av_print_breadcrumbs()
Print Filter History as Breadcrumbs
av_export_input_ids()
Widget IDs for the Figure Export Controls of a Plot Card

Visualization

Plots render from the object’s current state.

av_plot_distribution()
Plot Score Distributions
av_plot_comparison()
Plot Group Comparison (Differential Analysis)
av_plot_target()
Plot Target vs Background Score Distribution
av_plot_enrichment()
Plot Enrichment Results
av_plot_specificity()
Plot Variant Specificity
av_plot_priority()
Plot Top Variants by Priority Rank
av_plot_locus()
Plot Genomic Locus (Manhattan-style)
av_plot_interval()
Plot Scored Interval (UCSC Genome Browser Style)
av_plot_annotation()
Visualize Genomic Annotation Landscape

Reporting

Reproducible HTML/PDF reports, from the default template or a custom spec.

av_create_report()
Create Analysis Report
av_export_pdf()
Export HTML Report as PDF
av_report_template_default()
Default Report Template
av_report_add_block()
Add a Block to a Report Spec
av_report_remove_block()
Remove a Block from a Report Spec
av_report_registry()
Report Block Registry
av_report_save_template()
Save a Report Template to YAML
av_report_load_template()
Load a Report Template from YAML
validate_report_spec()
Validate an AlphaVarReportSpec

Interactive app

The code-free route through the same functions.

av_run_shiny()
Launch AlphaVaR Interactive Explorer
av_explore()
Explore AlphaGenome Variant Scores

Theming and plot helpers

Used by the app and the plot functions; rarely called directly.

av_theme_alpha()
AlphaVaR Publication Theme
render_av_plot()
Render a ggplot with Context-Aware Scaling (Shiny only)
render_av_plotly()
Render a plotly with Context-Aware Scaling (Shiny only)
av_finalize_plotly()
Finalize a ggplot for plotly rendering with mathematical axis labels

Shiny building blocks

UI and server components of the app.

av_ui_tab_intro()
Create a Tab Introduction Text Block
av_ui_plot_card()
Create a Plot Card with Help Popover for Shiny
av_ui_plot_header()
Create a Card Header with Help Popover
av_ui_help_popover()
Create a Standalone Help Popover Icon
av_ui_export_panel()
Create the Collapsed Figure-Export Block of a Plot Card
av_ui_report_builder()
Report Builder UI
av_server_plot_download()
Attach a Publication-Ready Figure Download to a Plot Card
av_server_report_builder()
Report Builder Server Logic