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# Key to Health and Wellbeing
Genetic testing plays a growing role in everyone’s health and wellbeing. Working closely with clinicians, more patients are making informed, proactive health decisions based on insights generated by Genoox.
## Genoox Research Applications
### An end-to-end approach to population genomics
### Faster screening, faster reporting
### Robust cohort research
Genoox helps health systems and research institutions across the globe accelerate the integration of genomics into clinical care - facilitating novel genetic discoveries and improving patient care.
Genoox facilities more rapid screening and reporting of risk-associated variants – helping clinicians inform and guide their patients more accurately.
Genoox enables research on patient cohorts, helping identify new risk-associated variants and impacting health policies,
## Why Genoox?
## Created for professionals, by professionals
Genoox is the creator of the world’s first open genomic community. Our users leverage our vendor-neutral, workflow-agnostic platform to create accurate data insights across the genomic value chain.
## The right tools to empower your pipeline
Genoox is a fully modular platform that enables
selection of relevant tools to maximize the efficiency
and accuracy of your NGS pipeline.
## AI-based variant classification
Our AI engine provides the best classifier based on any publicly available data source. It suggests relevant evidence, refines metrics and addresses gene-specific recommendations - delivering a fully-transparent ACMG\AMP-based variant classification.
## Reach all available data, use only what is relevant
Genoox prioritizes and aggregates frequently-updated information from published research, new and existing archives, and curated and uncurated databases. We filter out ‘noise’ and highlight evidence crucial to your decision making.
## Harness your genetic data
Genoox generates a durable genomic data repository that can be queried against variant statistics - maximizing linkage and assessment for comprehensive clinical classification and reporting using curated information and historical sample data.
## An end-to-end approach to population genomics
## Faster screening, faster reporting
## Robust cohort research
© 2022 All Rights Reserved
# Building the Actionable Genome
### Since our inception, We've been building the world's largest, most diverse real-world evidence dataset.
We are a rare blend of geneticists, bioinformaticians, engineers and technology experts who work together to answer any genomic question through the power of the community, data and insights.
## The Power of Community
We founded Genoox to find the best way to translate the massive amounts of genomic data generated every day into accessible, accurate and actionable insights at the point of care.
**Our mission:** to build the world's largest, most diverse real-world evidence dataset to answer any genomic question.
## A Global Network Effect
Along the way, we learned that only the power of the entire global genomic community could guide more informed clinical decision making, determine more accurate care pathways and enable more personalized and targeted therapies.
That’s why we created Franklin (Genoox’s community platform), the world’s first professional genomic community of users. Together with Genoox’s learning system, the Franklin community is bridging the gap between publicly-available data and real world insights.
Deployed in
44
Countries
Used in
1700
Genomic Centers
Handled over
150K
cases
### Genoox is fully committed to protecting patients’ genomic data, we are HIPPA, GDPR ready and ISO27001 (Information Security Management) certified.
## We are Passionate about our Mission
For us, improving patient outcomes through knowledge sharing is essential in ensuring equal access to healthcare worldwide. We believe that when the right information is in the right hands, at the right time, and with the right level of confidence, better health solutions can make life-changing differences, improving the lives of people across the globe.
**Join us in making genomic data accessible
and actionable at the point of care.**
## Our Investors
Our investors have joined our mission to build the largest, most diverse real-world evidence dataset to answer any genomic question through the power of the community, data and insights:
# Join Franklin's Network of Distributors!
Franklin by Genoox, the world's largest **community-driven genomic data platform**, is seeking local distributors in your region to collaborate and bring the **future of genetics** to your clients.
## Why Partner with Us?
Since launching our partnership program, we’ve successfully partnered with several local distributors worldwide. Our collaboration model allows distributors to bundle our bioinformatic solution with sequencing kits, resulting in dozens of deals won in the past year. Partnering with Franklin by Genoox provides a unique opportunity to bring these same benefits to your clients and unlock mutual success.
## Let’s Collaborate
We’re excited to explore the possibilities of working together. Our team is ready to discuss this opportunity further and answer any questions you may have about our platform. Reach out to us today and learn more about how we can work together. Join us in advancing the world of genomics with Franklin by Genoox. Your clients deserve the best, and we’re here to help you provide it.
## Join Our Global Partners Network
Australia & New Zealand
Spain
Ecuador
Mexico
Czech republic
Japan
Chile
Chez republic
Türkiye
USA
Romania
Italy
"The Franklin platform is a market leader, It stands head and shoulders above competition. Our partnership with Genoox has super-charged our efforts in the clinical market, opening doors to new accounts and expanding our business with our existing customers."
Josh Warburton, CEO, Decode Science
## About Franklin
Franklin, powered by Genoox, is at the forefront of the genomics revolution.
We're committed to simplifying genetic case analysis by combining AI with real-world evidence. Here's what you need to know about us:
## Global Community
We have over 25,000 monthly active users from 2000+ health organizations in 50 countries worldwide.
## Versatile Solutions
Our cutting-edge bioinformatic software supports a wide range of workflows, including Whole Genome Sequencing, Whole and Clinical Exome Sequencing, Hereditary Cancer panels, large and targeted Comprehensive Cancer panels, Carrier Screening, Low-Pass Sequencing, Microarray, and more.
## Dedicated Pipelines
We've developed dedicated pipelines for each workflow, including exhaustive bioinformatics, interpretation, and prioritization features, as well as data import and reporting capabilities to streamline raw data into clinical-grade reports.
## Hardware-Agnostic Solutions For All Sequencing Vendors
## Ready to be part of the genomics revolution?
Contact us today to explore distributor and partnership opportunities with Franklin Distributors.
# Resource Center
Connecting you to relevant, up-to-date professional guides and educational resources with a convenient self-help resource center
* All
* White Papers
* Use Cases
* Publications
[Use case
## End The Diagnostic Odyssey: Resolving Old Cases In Minutes With Genoox
Organizations are using Genoox to resolve old cases which were not possible to date, resulting in a confident, actionable diagnosis...
Read More
## Genoox Selected To Serve The 100,000 Israeli Genome Project
The Israeli Ministry of Health has chosen Genoox to provide advanced genetic insights to hospitals, clinical labs and researchers across...
## The Gene Behind The Disease
The Genoox platform was used by Teva as part of cohort analysis looking for a genetically-validated drug target for the...
[Publication
## Deficiency Of Mfsd7c Results In Microcephaly Associated Vasculopathy In Fowler Syndrome
Several missense mutations in the orphan transporter FLVCR2 have been reported in Fowler syndrome. Affected subjects exhibit signs of severe...
## Genotype Phenotype Associations In A Large Prph2 Related Retinopathy Cohort
Molecular variant interpretation lacks disease gene‐specific cohorts for determining variant enrichment in disease versus healthy populations. To address the molecular...
## Data Sharing To Improve Concordance In Variant Interpretation Across Laboratories Results From The Canadian Open Genetics Repository
Accurate variant interpretation is essential for the benefits of clinical genetic testing to be realized. In variant interpretation, multiple lines...
[White paper
## The Genoox Prioritization Engine Applying Proprietary Prioritization Tools To Identify Pathogenic Variants
Applying proprietary prioritization tools to identify pathogenic variants Advanced framework for variant prioritization based on ACMG practice guidelines for variant...
## The Genoox Classification Engine Applying Proprietary Artificial Intelligence (AI) Algorithms To Expedite ACMG Based Classification
Applying proprietary Artificial Intelligence (AI) algorithms to expedite ACMG based classification Genoox developed an automated classification engine based on ACMG...
## Rare Disease Discovery
Genoox reveals loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid...
## NGS Validation
Comparing exome performance and Sanger-sequencing in the clinical setting Clinical uses of Next Generation Sequencing (NGS) are continually expanding as...
## Benchmarking An Automated Variant Classification Engine Avce Algorithm Using Clinvar
Results of a Time-Capsule Experiment The Genoox aVCE was ‘trained’ on the ClinVar database (version 30-06-17). Variants with Reference/Submission ClinVar...
## A Novel Approach For Structural Variant Calling
Combining Data from Whole Genome Next-generation Sequencing and Optical Mapping A novel joint pipeline integrating NGS raw data with optical...
## Using Artificial Intelligence For Implementing New Recommendations Of The Pvs1 Loss Of Function Criterion
The aiVCE algorithm demonstrated excellent concordance with the ClinGen SVI Workgroup results. Further, the 5 variants demonstrating discordant classification strength...
## Reinterpretation Of Sequence Variants Using Artificial Intelligence
Evaluating Genoox AI Engine as a Tool For Performing Variant Reinterpretation These benchmarking results demonstrate the aiVCE’s ability to classify...
## Implementation Of Gene Specific Clingen Variant Classification Recommendations Using Artificial Intelligence
Frequency Thresholds The 2015 ACMG/AMP sequence variant interpretation guidelines provided a framework for classifying variants based on several benign and...
## Using Artificial Intelligence For Detection Of Hotspot Regions
ACMG/AMP PM1 Criterion Genoox demonstrated AI-based algorithms can aid in the detection of exonic and domain hotspot locations in genes....
## Homozygosity For Chek2 P Gly167arg Leads To A Unique Cancer Syndrome With Multiple Complex Chromosomal Translocations In Peripheral Blood Karyotype
Two patients presented with multiple chromosomal translocations, with an early-onset multiorgan tumourigenesis and early-onset acute myeloid leukemia were sequenced...
## Infantile Onset Progressive Cerebellar Atrophy And Anterior Horn Cell Degeneration A Novel Phenotype Associated With Mutations In The Pla2g6 Gene
In this paper, Wolfson Medical Center reports on a homozygous mutation in the PLA2G6 gene detected in two siblings from...
## Identification Of A Novel Pcnt Founder Pathogenic Variant In The Israeli Druze Population
In this paper, Rambam Medical center describes the identification of a novel founder pathogenic variant in PCNT gene (c.3465-1G > A) observed...
## A-Unique Presentation Of Infantile Onset Colitis And Eosinophilic Disease Without Recurrent Infections Resulting From A Novel Homozygous Carmil2 Variant
a boy with severe infantile-onset colitis and eosinophilic gastrointestinal disease and no evidence of recurrent or severe infections went through...
## A Novel Tufm Homozygous Variant In A Child With Mitochondrial Cardiomyopathy Expands The Phenotype Of Combined Oxidative Phosphorylation Deficiency 4
A novel homozygous missense variant in TUFM (c.344A>C) encoding mtDNA translation elongating factor Tu (EFTu) was identified by using Genoox...
## Stat1 Gain Of Function And Chronic Demodicosis
Hadassah medical center report on familial whole-exome sequencing analysis, which revealed heterozygous gain‐of‐function mutations in the STAT1 gene (c.821G>A)....
## Genoox Ai Engine Helps Discovering Metabolic Stroke In A Patient With Bi Allelic Opa1 Mutations
OPA1 related disorders include: classic autosomal dominant optic atrophy syndrome (ADOA), ADOA plus syndrome and a bi-allelic OPA1 complex neurological...
## Loss Of Cd55 In Eculizumab Responsive Protein Losing Enteropathy
Rambam medical center leverages the Genoox platform to reveal how a homozygous frameshift variant in CD55 segregates with protein-losing enteropathy...
## Prenatal And Postnatal Presentation Of Prmt7 Related Syndrome
Expanding the phenotypic manifestations Wolfson Medical Center report on familial whole-exome sequencing analysis, performed using Genoox software, to reveal a...
## Trio Clinical Exome Sequencing In A Patient With Multicentric Carpotarsal Osteolysis Syndrome
Rare disease discovery - First Case Report in the Balkans Testing the proband and her parents led to the identification...
## Establishing The Role Of Plvap In Protein Losing Enteropathy
A homozygous missense variant leads to an attenuated phenotype Rambam medical center report on familial whole-exome sequencing analysis, performed using...
## Rare Disease Diagnostics
Improving Diagnosis Yield With Reanalysis and AI for Rare Disease - A Single-center Experience and Lessons Learnt An accurate molecular...
## Loss Of Protocadherin 12 Leads To Diencephalic Mesencephalic Junction Dysplasia Syndrome
Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent...
## Atav A Comprehensive Platform For Population Scale Genomic Analyses
Summary We present ATAV, an analysis platform for large-scale whole-exome and whole-genome sequencing projects. ATAV stores variant and coverage data...