Folklore Clinical Variant Interpretation
Folklore is Helena Bioinformatics’ flagship clinical variant interpretation platform for genomics laboratories. It combines VCF analysis, curated evidence, literature, phenotype, inheritance and prioritisation in a traceable specialist workflow. Panels, exomes and genomes include nuclear, mitochondrial and structural/copy-number variants with ACMG/AMP, MMDWG and Riggs frameworks.
Its separate public, read-only Folklore MCP 1.6.0 offers 11 tools for public GRCh38 germline variant evidence, literature, ClinGen gene-disease associations and optional support. New resolve_gene, get_gene_profile, get_gene_section and search_gene_literature add explicit gene selection, snapshot-pinned profiles and sections, and separate live gene literature. MCP uses Streamable HTTP without an account or API key; it accepts no patient data, VCF uploads or batch analysis.
Results support qualified professional review and are not diagnoses or treatment recommendations.
Learn more about Folklore Clinical Variant Interpretation
StrandOmics
Efficient reporting of NGS-based clinical tests requires a robust and mature platform for automatic variant prioritization, clinical interpretation and report generation. Strand Omics is a fast, HIPAA-compliant cloud-based platform that drives our clinical diagnostics practice. It has been honed over 4 years and over 10,000 clinical reports and multiple peer-reviewed publications. Strand Omics combines bioinformatics algorithms, curated databases, visualization interfaces and reporting capabilities. It has specialized workflows for both rare inherited disorders as well as somatic tumor profiling tests. The platform contains over 10,000 somatic variants curated for oncogenicity, 100 genes curated for druggability in multiple cancer types and 500 drugs curated for evidence in multiple cancer types.
Learn more about StrandOmics
AlphaGenome
AlphaGenome is a Google DeepMind API and Python toolkit for computational genomics research. Researchers submit DNA sequences or genetic variants to obtain model predictions about gene expression, RNA splicing, chromatin accessibility, transcription-factor binding, histone marks, and genome contacts. The API supports variant scoring and analyses of genomic regions in human and mouse data, with tutorials and reference materials for programmatic workflows. It can help researchers investigate how genetic changes may affect gene regulation and prioritize hypotheses for further study. Access is provided through a hosted API, with a Python package for local client-side use and notebook examples. AlphaGenome is intended for research and is not validated or approved for clinical or diagnostic use; its predictions should not be treated as clinical results.
Learn more about AlphaGenome
Alissa Interpret
Alissa Interpret is your universal genomic data interpretation software for clinical decision support. Increase your productivity, shorten the turnaround time, and maintain regulatory compliance with Alissa Interpret’s agnostic CGH and NGS tertiary analysis platform for variant interpretation and reporting. Achieve complete operational efficiency when pairing Alissa Interpret with Agilent’s fully optimized SureSelect NGS reagents, intuitive secondary NGS analysis Alissa Reporter, Magnis walkaway automation, and TapeStation QC for a streamlined NGS data analysis workflow. External and internal curated variant knowledgebases at your fingertips. Automated variant interpretation solution accelerates CGH and NGS tertiary analysis. One platform for SNVs, InDels, CNVs, LOH, and fusions. Integrate with your LIMS and eliminate genomic data analysis bottlenecks. Connect with peers, share knowledge, and improve diagnostic yield.
Learn more about Alissa Interpret