Folklore Clinical Variant InterpretationHelena Bioinformatics
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Signals TranslationalPerkinElmer
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Related Products
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About
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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About
With visual analytics powered by TIBCO Spotfire®, PerkinElmer Signals Translational provides all the necessary tools to harmonize, manage, search, aggregate and analyze data consistently across large datasets for use in translational research in a highly scalable manner. Powered by the industry-leading visual analytics platform TIBCO Spotfire®, Signals Translational enables precision medicine studies with the most advanced biomarker discovery and patient stratification solution available today. The Linear Mixed Effect App (LME) in Signals Translational allows scientists to rank the effect of multiple variables on a phenotype of interest, with the option to correct the effect of random variables in the analysis. The genes with the strongest impact on cancer stage progression can be identified independently of the origin of the patients. With the advantage of properly handling missing values and outliers, LME models are an effective tool to identify potential biomarkers.
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Platforms Supported
Windows
Mac
Linux
Cloud
On-Premises
iPhone
iPad
Android
Chromebook
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Platforms Supported
Windows
Mac
Linux
Cloud
On-Premises
iPhone
iPad
Android
Chromebook
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Audience
Clinical genomics teams, molecular diagnostics laboratories, variant scientists, bioinformaticians, researchers and academic or healthcare organizations evaluating public genomic evidence.
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Audience
Professionals requiring an advanced data access and analytics solution for biomarker discovery and patient stratification
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Support
Phone Support
24/7 Live Support
Online
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Support
Phone Support
24/7 Live Support
Online
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API
Offers API
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API
Offers API
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Screenshots and Videos |
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Pricing
No information available.
Free Version
Free Trial
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Pricing
No information available.
Free Version
Free Trial
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Reviews/
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Reviews/
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Training
Documentation
Webinars
Live Online
In Person
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Training
Documentation
Webinars
Live Online
In Person
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Company InformationHelena Bioinformatics
Bulgaria
folklore.helena.bio
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Company InformationPerkinElmer
Founded: 1937
United States
perkinelmerinformatics.com/products/clinical-translational/signals-translational/
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Integrations
Signals Research Suite
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