SynVar

SynVar generates standardized and non-standardized descriptions of single nucleotide polymorphisms (SNPs) at genome, transcript, and protein levels to support variant curation and retrieval across heterogeneous representations referenced by AMP/ASCO/CAP guidelines.

Key Features:

• Comprehensive Variant Descriptions: Generates detailed descriptions for any SNP, including novel or undocumented variants, at genome, transcript, and protein levels.
• Standardized and Non-Standard Formats: Produces variant descriptions in HGVS format and multiple non-standard formats commonly found in the literature.
• Database Identifiers Integration: Includes database identifiers to enable cross-referencing and validation across genomic resources.

Scientific Applications:

• Variant Curation Support: Improves retrieval and curation workflows for genomic variant curation-support services by expanding searchable variant representations.
• Literature and Document Search Augmentation: Enhances searches of variant-containing documents in literature, increasing recall by 133.8% while maintaining a high precision of 93%.

Methodology:

Dynamically generates variant descriptions for any given SNP, producing representations at genome, transcript, and protein levels and outputting HGVS and non-standard formats with associated database identifiers.