PacBio

PacBio

Pacific Biosciences (PacBio)
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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.

About

PacBio (Pacific Biosciences) is a premier life science technology company that is designing, developing and manufacturing advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. The Revio system adds affordability, high throughput, and ease of use to a foundation of long reads, exceptional accuracy, and direct methylation detection. The Onso system is an innovative benchtop short-read DNA sequencing platform with an extraordinary level of accuracy using PacBio sequencing by binding.

Platforms Supported

Windows
Mac
Linux
Cloud
On-Premises
iPhone
iPad
Android
Chromebook

Platforms Supported

Windows
Mac
Linux
Cloud
On-Premises
iPhone
iPad
Android
Chromebook

Audience

Clinical genomics teams, molecular diagnostics laboratories, variant scientists, bioinformaticians, researchers and academic or healthcare organizations evaluating public genomic evidence.

Audience

Scientists in the field of genomics looking for highly-accurate genomic analysis systems

Support

Phone Support
24/7 Live Support
Online

Support

Phone Support
24/7 Live Support
Online

API

Offers API

API

Offers API

Screenshots and Videos

Screenshots and Videos

Pricing

No information available.
Free Version
Free Trial

Pricing

No information available.
Free Version
Free Trial

Reviews/Ratings

Overall 0.0 / 5
ease 0.0 / 5
features 0.0 / 5
design 0.0 / 5
support 0.0 / 5

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Reviews/Ratings

Overall 0.0 / 5
ease 0.0 / 5
features 0.0 / 5
design 0.0 / 5
support 0.0 / 5

This software hasn't been reviewed yet. Be the first to provide a review:

Review this Software

Training

Documentation
Webinars
Live Online
In Person

Training

Documentation
Webinars
Live Online
In Person

Company Information

Helena Bioinformatics
Bulgaria
folklore.helena.bio

Company Information

Pacific Biosciences (PacBio)
Founded: 2004
United States
www.pacb.com/products-and-services/

Alternatives

VSClinical

VSClinical

Golden Helix

Alternatives

VarSeq

VarSeq

Golden Helix
QIAGEN CLC Genomics Workbench

QIAGEN CLC Genomics Workbench

QIAGEN Digital Insights
Emedgene

Emedgene

Illumina

Categories

Categories

Integrations

No info available.

Integrations

No info available.
Claim Folklore Clinical Variant Interpretation and update features and information
Claim Folklore Clinical Variant Interpretation and update features and information
Claim PacBio and update features and information
Claim PacBio and update features and information