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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...

Use case

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...

Use case

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...

Publication

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...

Publication

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...

White paper

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...

Publication

Rare Disease Discovery

Genoox reveals loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid...

Publication

NGS Validation

Comparing exome performance and Sanger-sequencing in the clinical setting Clinical uses of Next Generation Sequencing (NGS) are continually expanding as...

Publication

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...

Publication

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...

Publication

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...

Publication

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...

Publication

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...

Publication

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....

Publication

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...

Publication

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...

Publication

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...

Publication

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...

Publication

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...

Publication

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)....

Publication

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...

Publication

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...

Publication

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...

Publication

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...

Publication

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...

Publication

Rare Disease Diagnostics

Improving Diagnosis Yield With Reanalysis and AI for Rare Disease - A Single-center Experience and Lessons Learnt An accurate molecular...

Publication

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...

Publication

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...

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Resource Center

End The Diagnostic Odyssey: Resolving Old Cases In Minutes With Genoox

Genoox Selected To Serve The 100,000 Israeli Genome Project

The Gene Behind The Disease

Deficiency Of Mfsd7c Results In Microcephaly Associated Vasculopathy In Fowler Syndrome

Genotype Phenotype Associations In A Large Prph2 Related Retinopathy Cohort

Data Sharing To Improve Concordance In Variant Interpretation Across Laboratories Results From The Canadian Open Genetics Repository

The Genoox Prioritization Engine Applying Proprietary Prioritization Tools To Identify Pathogenic Variants

The Genoox Classification Engine Applying Proprietary Artificial Intelligence (AI) Algorithms To Expedite ACMG Based Classification

Rare Disease Discovery

NGS Validation

Benchmarking An Automated Variant Classification Engine Avce Algorithm Using Clinvar

A Novel Approach For Structural Variant Calling

Using Artificial Intelligence For Implementing New Recommendations Of The Pvs1 Loss Of Function Criterion

Reinterpretation Of Sequence Variants Using Artificial Intelligence

Implementation Of Gene Specific Clingen Variant Classification Recommendations Using Artificial Intelligence

Using Artificial Intelligence For Detection Of Hotspot Regions

Homozygosity For Chek2 P Gly167arg Leads To A Unique Cancer Syndrome With Multiple Complex Chromosomal Translocations In Peripheral Blood Karyotype

Infantile Onset Progressive Cerebellar Atrophy And Anterior Horn Cell Degeneration A Novel Phenotype Associated With Mutations In The Pla2g6 Gene

Identification Of A Novel Pcnt Founder Pathogenic Variant In The Israeli Druze Population

A-Unique Presentation Of Infantile Onset Colitis And Eosinophilic Disease Without Recurrent Infections Resulting From A Novel Homozygous Carmil2 Variant

A Novel Tufm Homozygous Variant In A Child With Mitochondrial Cardiomyopathy Expands The Phenotype Of Combined Oxidative Phosphorylation Deficiency 4

Stat1 Gain Of Function And Chronic Demodicosis

Genoox Ai Engine Helps Discovering Metabolic Stroke In A Patient With Bi Allelic Opa1 Mutations

Loss Of Cd55 In Eculizumab Responsive Protein Losing Enteropathy

Prenatal And Postnatal Presentation Of Prmt7 Related Syndrome

Trio Clinical Exome Sequencing In A Patient With Multicentric Carpotarsal Osteolysis Syndrome

Establishing The Role Of Plvap In Protein Losing Enteropathy

Rare Disease Diagnostics

Loss Of Protocadherin 12 Leads To Diencephalic Mesencephalic Junction Dysplasia Syndrome

Atav A Comprehensive Platform For Population Scale Genomic Analyses

Contact Us