Resources

The Resources field provides links to external databases with pre-filled search queries, helping users efficiently gather supporting evidence for variant interpretation.

Available resources

• UCSC Genome Browser

• GeneCards (retired in v100.39.0)

• PubMed

• WikiGenes (retired in v100.39.0)

• Google Scholar (v100.39.0+)

• LitVar2 (v100.39.0+)

• Genomenon

How search queries are built

v100.39.0+ and above

Search queries are built using detailed variant information whenever possible.

The smart query builder:

• Supports variant aliases

• Takes variant type into account for more precise and context-aware results

The query logic varies by variant type:

• SNVs/indels (including mtDNA): Includes gene symbol, dbSNP identifier, HGVS coding change, and HGVS protein change across affected transcripts

• CNVs: Includes gene symbol, ISCN notation, cytoband, genomic location, and standard terms like «CNV», «deletion» and similar

• SV insertions: Includes gene symbol, cytoband, genomic location, and standard SV descriptors, and standard terms like «SV», «rearrangement» and similar

Versions prior to v100.39.0

Search queries are based on gene information only.