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.
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QIAGEN CLC Genomics Workbench
QIAGEN CLC Genomics Workbench is a powerful solution that works for everyone, no matter the workflow. Cutting-edge technology and unique features and algorithms widely used by scientific leaders in industry and academia make it easy to overcome challenges associated with data analysis. User-friendly bioinformatics software solutions allow for comprehensive analysis of your NGS data, including de novo assembly of whole genomes and transcriptomes, resequencing analysis (WGS, WES and targeted panel support), variant calling, RNA-seq, ChIP-seq and DNA methylation (bisulfite sequencing analysis). Analyze your RNA-seq and small RNA (miRNA, lncRNA) data with easy-to-use transcriptomics workflows for differential expression analysis at gene and transcript levels. QIAGEN CLC Genomics Workbench is developed to support a wide range of NGS bioinformatics applications.
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Emedgene
Emedgene streamlines your tertiary analysis workflows for rare disease genomics and other germline research applications. Emedgene is designed to accelerate the time and certainty in user-defined variant interpretation, prioritization, curation, and research report generation. Enable greater efficiency from your tertiary analysis workflows with explainable AI (XAI) and automation supporting genomes, exomes, virtual panels, and targeted panels. Unify your laboratory and NGS instrumentation with your IT systems to simplify and secure your complete workflow. Confidently keep pace with evolving science, technology, and demand with up-to-date knowledge graph options, curation capabilities, and a team of experts to support your journey. Increase throughput without increasing headcount using explainable AI (XAI) and automated workflows. Implement a high throughput WGS, WES, virtual panel, or targeted panel workflow that is integrated into your lab's digital ecosystem.
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Illumina DRAGEN Secondary Analysis
The Illumina DRAGEN Secondary Analysis provides accurate, comprehensive, and efficient analysis of next-generation sequencing data. Graph reference genome and machine learning driving unprecedented accuracy. Provides ultra-efficient workflow; can fully process a 34x whole human genome in ~30 minutes with DRAGEN server v4. Furthers ultra-efficient workflow by reducing FASTQ file sizes up to 5×. Analyzes next-generation sequencing (NGS) data from whole genomes, exomes, methylomes, and transcriptomes. Available on platform of choice and scalable based on needs. DRAGEN analysis leads in accuracy for germline and somatic variant calling demonstrated in industry challenges from precisionFDA. DRAGEN analysis enables labs of all sizes and disciplines to do more with their genomic data. DRAGEN analysis uses highly reconfigurable field-programmable gate array technology (FPGA) to provide hardware-accelerated implementations of genomic analysis algorithms.
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