GenomeArc

🌟 This year, GenomeArc's multinational team, actively engaged with YOU, the global clinical genomics community, through meetings and public engagement. Our aim is to help our users for years to come with your genomic analytics.

🌟 We want to create impact by providing ultra-fast clinical genomic solutions to YOU enabling fast diagnosis and personalized therapeutics.

🌟 Diversity is our strength, our multinational team are passionate about democratizing genomic analytics worldwide.

🌟 From University of Toronto to Dubai Health to NeuroGen Healthcare, we went through continents to meet YOU and to empower your genomic abilities.

We're honored to announce that Dr. Mohammed Dafil, our founder, was recently featured in PrecisionMed Exhibition! The article delves into his vision for GenomeArc, including HORIZON, a groundbreaking platform that unifies multi-OMICs for genomic diagnosis and therapeutics. We're humbled by the recognition and excited to contribute to the field of precision medicine.
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We're thrilled to announce a formal affiliation agreement between GenomeArc and Humber College, Ontario! Our founder Mohammed Dafil signed the agreement in Toronto. This collaboration will unlock new internship opportunities for students, and researchers in the field of genomics in Ontario 🇨🇦 .

Explore the world of variant interpretation and genomic tertiary analytics with us at GenomeArc. We are exhibiting our technology at PrecisionMed Exhibition & Summit Dubai, please drop by at booth D21.

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Our founder Dr. Mohammed Dafil will speak at the international Precision Med Exhibition and Summit in Dubai this May 9th, 2024.

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Unfurling the Strand - What Impact Will Re-engineered Genes Have on Society?
✨For the first time in history, Human just achieved the power to edit themselves at the level of DNA, how this will impact who we are and what we can become, the impact on medicine and the ethical boundaries on designing future human.

✨Our founder neurogenetic scientist Dr. Mohammed Dafil, Professor Deiter, a developmental biologist from Columbia University and Dr. Mattew, clinician scientist of human reproduction system from Newcastle University at Dubai Future Forum 2023.
Dubai Future Foundation

Our Founder Mohammed Dafil is speaking with Paweł Świeboda, founder of NeuroCentury on Genomic Medicine.

They discussed how genetic mutations can lead to diagnosis, therapeutics, and the complexities around the implementations.
They also discussed how 'Horizon' platform helps ultra-fast diagnosis to resolve complex cases for rare diseases and pan cancer patients.

11. ⁠From Gene to Cure: Turning the Genomics Revolution into Pathway for Treatment⁠ by NeuroCentury Coming from Dubai, this episode of NeuroCentury, is devoted to advances in genetics and their impact on the treatment of brain disorders. Paweł Świeboda talks to Mohammed Uddin, a human geneticist with a focus on the genetics neurological and neuropsychiatric disorders. Mohammed is Professor at th...

Neurodevelopmental disorders (NDD) are a collection of rare conditions that includes autism spectrum disorders, epilepsy, intellectual disabilities and other broader neuro related conditions. NDD is highly genetic and genome sequencing is improving the total diagnostic yield.

To discuss the impact of genetic tests in the clinic, we have Dr. Marc Woodburry-Smith who is a globally renowned neuropsychiatrist and Senior Lecturer at Bioscience Institute, Newcastle University, Newcastle Upon Tyne, UK. Dr. Marc will share valuable insight about genetic tests and its impact from a perspective of a clinician and a scientist.

GenomeArc Webinar Clinical Genetic Insight from a neurodevelopmental clinic-Dr. Marc Woodbury-Smith Neurodevelopmental disorders (NDD) are a collection of rare conditions that includes autism spectrum disorders, epilepsy, intellectual disabilities and other...

Critical appraisal finds methodological rigour of guidance documents for genomic sequencing to diagnose to be of low quality. https://bit.ly/44MtZzH

We are thrilled to announce that GenomeArc is now part of the NVIDIA Inception program. Horizon can now evolve faster with the resources from NVIDIA Inception and unlock amazing opportunities in large-scale genome analytics!

We are excited to announce this month’s speaker at our clinical genomics webinar, Dr. Marc Woodbury-Smith.

Dr. Woodbury-Smith will be joining us on the 22nd of September hosted by GenomeArc's Science Communication and Marketing Officer, Mariam Eldesouky. He will be talking about clinical genetic testing and giving us valuable insights as a clinician-scientist working in a pediatric Neurodevelopmental clinic.

It is a unique perspective from an expert in the field and we are excited for you to be with us!

Register Here: https://docs.google.com/forms/d/e/1FAIpQLSdlvJQIabpY6ZyG-lfgzfe7-oYomtobJTzNm9OCsE6f2bCvzw/viewform

Interesting finding shows de novo missense variants impacting PIP5K1C underlie a neurodevelopmental syndrome associated. The mutation alteres early endosomes (EE) trafficking and in vivo model recapulates most of the observed phenotypes.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling We describe a neurodevelopmental disorder associated with de novo gain-of-function variants in PIP5KIγ kinase. The variants cause perturbed endosomal function resulting from increased production of phosphatidylinositol 4,5 bisphosphate and enhanced association of F-actin at endosomes. Moreover, mut...

GenkmeArc Webinar: Dr. Mohammed Dafil talking briefly about genome interpretation, Crispr modelling, long read sequencing, machine learning and pan-genome initiatives!

GenomeArc on LinkedIn: GenomeArc Webinar: Interpreting Genome and Emerging Technologies (Dr… GenomeArc Webinar: A talk about interpreting genome and the emerging technologies by Dr. Mohammed Uddin (Dafil). In this talk, 📍the application of long read…

Today marks the birthday of GenomeArc, we’ve come a long way and there are still more ways to go! Thank you all for your support and we’re excited to continue this journey. We are celebrating 2nd year of GenomeArc by reflecting on how GenomeArc can contribute to making a healthier future by accelerating precision medicine!

Horizon supports all types of variants from any long or short read sequencers for precision pathogenicity analysis. Illumina PacBio Oxford Nanopore Technologies

For critical care (NICU/PICU), rare disorders and cancer patients, Horizon provides ultra fast analytics to enable insightful clinical decision on diagnosis and intervention.

For Horizon details: http://genomearc.com/blog-show/14

Why did we need to update the human genome reference sequence? When it was created during the Human Genome Project, around 70% of it came from only one person with blended ancestry, which includes African, European, Admixed American, East Asian and South Asian ancestry. The remaining 30% came from 19 individuals of mostly European ancestry.

Because the data mostly came from one person, the genomic diversity was very limited. To be representative, a reference genome sequence needs to encompass many more sequences, especially sequences from people all over the world. This way, genomic findings can help all populations!



That’s why researchers from the Human Pangenome Reference Consortium have completed a collection of new human reference genome sequences that reflect much more global diversity!



This new pangenome reference includes genomes from 47 people, which is more than double the amount from the existing reference sequence. Researchers aim to have 350 genomes by 2024!



A reference genome that represents more diverse human populations will help researchers gain more understanding of the link between genes and disease traits. Learn more about the pangenome: genome.gov/pangenome

YWHAE loss of function causes rare neurodevelopmental disease
Editor's Choice from
http://spkl.io/60134gAQF

Kathleen Folbigg: Misogyny helped jail her, science freed her Kathleen Folbigg was convicted of killing her four infant children in a stunning miscarriage of justice.

Horizon platform validated variant prediction algorithms applying multiple genetically diverse populations.
Pathogenicity prediction algorithm significantly enhance its precision when ethnicity specific variant frequencies are integrated into the model. Horizon workflow allows numerous ethnicity based integration to classify and reclassify genomic variant pathogenicity.

For more info: http://genomearc.com/blog-show/14

With extreme excitement we are unveiling Horizon platform. A powerful platform that classifies and interpret variants for rapid clinical diagnosis and therapeutic interventions of rare genetic diseases and cancer. Please read more about Horizon: https://lnkd.in/dw8AzGqr

Horizon is a platform that uses multivariate regression model, natural language model, and large scale clinical genomic databases to identify clinically relevant variants. Validated in large clinical cohorts, we hope Horizon will solve complex rare cases and will detect cancer mutations from tissue or liquid biopsy to save patients’ lives.

Let’s bring lifesaving impact into patients’ journey!

http://genomearc.com/blog-show/14