A professional variant interpretation tool combining curated data with automated ACMG and AMP-based classifications.

A CE IVDR Class C platform delivering variant calling, automated variant annotation, and classification for clinical workflows.

Programmatic access to VarSome’s annotation engine for high-throughput processing, classification, and pipeline integration.

Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets - Wong et al. 2025.

Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment - Gazola et al. 2024.

Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance - So et al. 2024.

Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B gene - Horackova et al. 2025.

Integration of VarSome API in an existing bioinformatic pipeline for automated ACMG interpretation of clinical variants - Sorrentino et al. 2021.

Variant selection and interpretation: an example of modified VarSome classifier of ACMG guidelines in the diagnostic setting – Cristofoli et al. 2021.

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