VarSeq
Simple, fast, and repeatable variant analysis software for gene panels, exomes, and whole genomes. VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and analyze variants for gene panels, exomes, and whole genomes. Understanding genomic data has never been easier thanks to our software. VarSeq software provides a powerful filtering and annotation engine to sift through large variant data sets. Using a chain of filters, you can quickly narrow your list of variants down to those that are most likely to be of interest. After determining the parameters that work well for your analysis, you can save the state of your filters so that you can easily apply the same analysis to another dataset. The same automated workflow can be used for each batch of samples, making VarSeq an ideal solution for high-throughput environments. Real-time filtering gives you the power to quickly prototype and tune analysis workflows.
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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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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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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.
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