SeqOne
SeqOne is an AI-powered genomic analysis platform designed to help molecular laboratories, clinical teams, biologists, and geneticists transform complex next-generation sequencing data into fast, precise, and actionable clinical insights to support personalized medicine diagnostics. It streamlines end-to-end genomic workflows, from raw sequencing files to variant interpretation and reporting, by automating routine pipeline tasks, integrating seamlessly with lab systems, and using advanced AI models such as DiagAI to rank and highlight disease-relevant variants with explainable scores, reducing manual effort and turnaround time. SeqOne supports germline and somatic analyses across applications, including oncology, rare and inherited diseases, and infectious disease detection, combining premium annotation databases and standardized interpretation guidelines to ensure clinical-grade accuracy within an intuitive user interface that scales via secure cloud.
Learn more about SeqOne
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
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