Machine learning and Artificial Intelligence have a huge potential in maximizing rare disease diagnosis and treatment. Through their integration into genomics, we can change the way rare diseases are managed. Check out our latest blog post on the Interpretation of rare genetic diseases through machine learning-based automation: https://lnkd.in/dCKpSiTQ #genomics #machinelearning #blog #rarediseases
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We are thrilled to announce that GenomeArc Horizon Platform can now run full genomic tertiary analysis on whole genome in 10 minutes! This enables a transformational change by providing deep insights into an individual's genome in the shortest possible time. This is a significant breakthrough and will transform outcomes for patients and clinicians. Experience a new era of precision medicine with our cutting-edge technology, accelerating the path from data to diagnosis. GenomeArc Horizon’s current version support Illumina and PacBio whole genome sequencing platforms! Read here the full press release: https://lnkd.in/dQccMce6 #tertiaryanalysis #genomics #sequencing #GenomeArc Oxford Nanopore Technologies
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Meet our Founder, Dr. Mohammed Uddin Dafil, a neurogeneticist and a visionary who started GenomeArc's journey to implement genomic medicine to create global impact. He did his post-graduate degree in artificial intelligence, PhD in human genetics and postdoc at The Hospital for Sick Children in rare neurodevelopmental disorders. He is a renowned scientist, and an academic fuelled by entrepreneurial spirit. He established GenomeArc in Canada 🇨🇦 to accelerate the implementation of genomic medicine, leveraging cutting-edge computation and algorithm development to provide precise and ultra-fast diagnoses/therapeutic insights for patients with rare diseases and cancer. #Scientist #medicine #SickKids Dubai Health #rarediseases #genomics #futuretech
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We are delighted to announce our guest speaker for GenomeArc’s clinical genomics webinar. We are back this July with a topic you requested, a combination of Cancer Genomics and Bioinformatics Techniques! On July 11th we will have Deniz Duzenli from Humber College. She will be discussing her research in Pan-cancer genomics through a bioinformatics approach. Deniz has also joined us recently for her internship and we are thrilled to have her with us this July. Register here: https://lnkd.in/d7kvbrbY #webinar #clinicalgenomics #genomics #GenomeArc
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🌟 CHEK2 variants are now implicated in multiple malignancies in various tissues. Numerous independent studies reported CHEK2 gene association with a spectrum of malignancies. 🌟 The most common malignancies are breast cancer, colon and thyroid. 🌟 CHEK2 was specifically screened for breast cancer, may miss out other malignancies. 🌟 c.1100delC is one of the most frequent risk site that requires additional testing. CHEK2 Papers: https://lnkd.in/d8f7VPke https://lnkd.in/dS3_HUnv https://lnkd.in/dzxhacy6 #CHEK2 #cancer #genetics #tumor #genomics
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🌟 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. #genomics #genomeArc #Team #genetics #genomesequencing
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✨ Step into the next era of genomic analysis with GenomeArc Horizon. Combining exceptional accuracy with ultra-fast processing (>5 million variants in 10 minutes). ✨ This innovative software accelerates tertiary genome analysis for rare diseases and cancer. Experience the fusion of speed and precision with GenomeArc Horizon, the ultimate tool for modern genomics. ✨ More about GenomeArc Horizon: https://lnkd.in/dFdgNzXS ✨ Press release on analysis acceleration: https://lnkd.in/dQccMce6 #Genomics #RareDiseases #CancerResearch #GenomeArcHorizon #PrecisionMedicine
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From 822 families with rare diseases: 🌟Genetic diagnostic yield achieved for 29.3% families. 🌟8.2% families required genome sequencing, where pathogenic variants missed by exome. 🌟Reanalysis of the negative exome data increased diagnostic yield by using additional tools for variant interpretation and calling CNVs. Please read the paper: https://lnkd.in/dStKj9qs #rarediseases #genomeArc
Genome Sequencing for Diagnosing Rare Diseases | NEJM
nejm.org