VarCards2

VarCards2 provides comprehensive variant- and gene-level annotations aligned with the ACMG-AMP variant-interpretation guidelines to support clinical variant interpretation and genetic counselling for both coding and non-coding variation.

Key Features:

• Comprehensive Variant Coverage: Includes nearly nine billion artificially generated single-nucleotide variants (SNVs), mitochondrial DNA SNVs, 368,820,266 documented short insertions and deletions (indels), and 2,773,555 copy number variations (CNVs).
• Detailed Annotations: Provides functional effect annotations, minor allele frequencies, and function and pathogenicity predictions for all possible variant types, including non-synonymous substitutions, non-canonical splicing variants, and non-coding variations.
• Gene-Level Information: Compiles gene-level data to support interpretation of variant impact at the gene level.
• Integration of Multiple Annotation Sources: Aggregates information from over 150 variant- and gene-level annotation sources.
• ACMG-AMP Guideline Alignment: Annotation and interpretation support are aligned with the ACMG-AMP variant-interpretation guidelines.

Scientific Applications:

• Genetic counselling: Supports interpretation of individual genomic variants for clinical decision-making in genetic counselling.
• Clinical variant classification: Facilitates variant classification and pathogenicity assessment consistent with ACMG-AMP criteria.
• Research on coding and non-coding variation: Enables analysis of both coding and non-coding variants, including mitochondrial variants, for research into variant effects and disease associations.

Methodology:

Computational methods and implementation details are not specified in the provided description.