Franklin by Genoox – Medium

Franklin by Genoox

Franklin by Genoox

#ShareForRare: Fibrodysplasia ossificans progressiva (FOP)

This #RareDiseaseDay, we’re shedding light on FOP, an ultra-rare disease. Join us in raising awareness by exploring the intricacies of this…

5 min readFeb 28, 2024

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#ShareForRare: Fibrodysplasia ossificans progressiva (FOP)

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Franklin by Genoox

#ShareForRare: Congenital Glaucoma

This #GlaucomaAwarenessMonth, we’re shedding light on Congenital Glaucoma, a rare eye condition affecting infants and young children. Join…

6 min readJan 22, 2024

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Congenital glaucoma

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Franklin by Genoox

Seamless Transition of Your Agilent Tests from Alissa to Franklin

Transitioning to a new solution can be a significant undertaking. To make this process smoother and more manageable, we’ve distilled it…

5 min readOct 5, 2023

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Franklin supports PGx, Carrier Screening, Somatic and Germline panels, Microarray, Cancer predisposition, WES and WGS (single and trio), and more!

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Franklin by Genoox

Franklin’s Community Spotlight —Annie & Wyatt Medlen

“Can you imagine? I fed my son toxic poisonous carbohydrates for two years without even knowing, and he has brain damage from it…” Annie…

5 min readSep 30, 2023

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Franklin’s Community Spotlight —Annie & Wyatt Medlen

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Franklin by Genoox

#ShareForRare: PDCD

What is PDCD?

7 min readSep 18, 2023

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Summary of PDCD

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Franklin by Genoox

#ShareForRare: XLHED

What is XLHED?

6 min readAug 15, 2023

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#ShareForRare: XLHED

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Franklin by Genoox

#ShareForRare: AADC deficiency

What’s AADC deficiency?

6 min readJun 2, 2023

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Infographic showing inheritance mode, age of onset, prevalence and main phenotypes of AADC deficiency

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Franklin by Genoox

#ShareForRare: Timothy Syndrome

What is Timothy Syndrome?

7 min readApr 24, 2023

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Timothy Syndrome summary: Gene: CACNA1C / Inheritance mode: Autosomal Dominant / Age of onset: Neonatal, Antenatal / Prevalence: <100 cases /Main phenotypes: QT prolongation, Congenital Heart Defects, Syndactyly, Facial Dysmorphism, and Autism

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Franklin by Genoox

#ShareForRare: Rett syndrome

What is Rett syndrome?

7 min readMar 27, 2023

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RTT summary: inheritance mode, age of onset, prevalence, main phenotypes

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Franklin by Genoox

#ShareForRare: Inherited RTD

What’s Inherited RTD?

5 min readFeb 23, 2023

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infographic showing genes, inheritance mode, age of onset, prevalence and main phenotypes of inherited RTD

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Franklin by Genoox

Franklin by Genoox

The world’s largest, most diverse real-world genetic evidence database. We believe that community data-sharing is the future of genomics

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