Documentation / AI Clinical Assistant / Capabilities
Capabilities
The Folklore AI Assistant works with the current case context and local literature index. It can query recorded variants, retrieve relevant publications, explain the available evidence, draft interpretation text, and suggest visualizations.
Conversational Variant Analysis
The assistant can translate a natural-language question into a read-only query against the current case database. Returned fields are limited to the data needed for the question and remain traceable to the stored analysis.
"Show me all pathogenic variants in cardiac genes"
"How many VUS have a gnomAD frequency below 0.01%?"
"List frameshift variants in genes with pLI above 0.9"
"What is the ACMG classification breakdown for chromosome 17?"
"Find compound heterozygote candidates in metabolic genes"
Literature Search
The assistant searches a local biomedical literature database containing over 1 million publications, 400,000 gene mentions, and 100,000 variant mentions. Literature queries run against this local mirror -- no external API calls are made during the search.
"What does the literature say about SCN1A and epilepsy?"
"Find recent publications mentioning BRCA1 pathogenic variants"
"Are there any case reports for this specific HGVS notation?"
"What is the evidence for this gene in cardiomyopathy?"
Clinical Interpretation
The assistant can draft a structured clinical interpretation for the current case using the recorded ACMG results, phenotype correlation, screening priorities, and literature evidence. The draft requires geneticist review. See Clinical Interpretation for details on interpretation levels and report structure.
Report Generation
Clinical interpretations can be exported as branded PDF or DOCX reports. PDF reports use Folklore branding with proper page headers, footers, page numbers, and a "CONFIDENTIAL" watermark. DOCX reports provide editable Word documents for further customization before distribution.
Intelligent Visualization
When the assistant executes a database query, it analyzes the results and suggests an appropriate visualization. The suggestion is genomics-aware: ACMG classification queries get pie charts with standard pathogenicity colors, chromosome distribution queries get genomically-sorted bar charts, and gene constraint queries can get scatter plots with clinical priority quadrants.
| Query Type | Visualization |
|---|---|
| ACMG classification breakdown | Pie chart with pathogenicity colors |
| Variant impact distribution | Severity-ordered bar chart (HIGH to MODIFIER) |
| Variants per chromosome | Genomically-sorted bar chart (chr1-22, X, Y, M) |
| Top genes by variant count | Bar chart with optional pLI constraint overlay |
| Gene constraint vs. frequency | Scatter plot with clinical priority quadrants |
| Specific variant details | Sortable, exportable data table |
Clinical Knowledge
Even without querying databases, the assistant has extensive clinical genetics knowledge covering ACMG/AMP classification guidelines, Mendelian inheritance patterns, gene-disease associations, population genetics principles, HPO ontology, and functional predictor interpretation. It can explain why a specific ACMG criterion was triggered, discuss inheritance modes for a gene, or clarify the clinical significance of a computational prediction score.
What the Assistant Does Not Do
It does not make clinical diagnoses. The assistant provides analysis and interpretation support, but all findings require validation by a qualified clinical geneticist.
It does not modify variant classifications. ACMG classifications are determined by the automated pipeline and can only be overridden by the reviewing geneticist.
It does not access external databases during conversation. All queries run against local data that was loaded during the analysis pipeline.
It does not retain information between separate analysis sessions. Each case has its own isolated context.
It does not reclassify variants or substitute its own ACMG assessment for the pipeline's classification.