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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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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Folklore Clinical Variant Interpretation
Folklore is Helena Bioinformatics’ 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 1.5.0 offers seven tools for supported GRCh38 germline variant evidence, literature, ClinGen gene-disease associations and optional support. New get_gene_disease_associations and search_disease_genes tools accept gene/HGNC or disease/MONDO queries and preserve inheritance, source classifications and provenance. 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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Geneyx
Geneyx Analysis is a comprehensive solution for next-generation sequencing (NGS) data that can scale the process of FASTQ to clinical reports for hospital and commercial labs. This advanced platform integrates machine learning and AI-based features to identify novel biomedical insights, while also improving diagnostic yields and turnaround times. By providing a fully transparent and intuitive solution, Geneyx Analysis enables clinicians and researchers to have complete control over data analysis and alleviates the complexities of regulating in-house bioinformatics pipelines. Protocols can be fully customized to accommodate gene panels, exomes, and genomes, and our comprehensive annotation engine supports the analysis of all genetic variants including structural and copy number variations as well as regulatory elements. Together, Geneyx Analysis automates the diagnostic process from sequencer to report, while creating a comprehensive resource for novel variant discovery.
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