Sandra Bello Uyaban from Gencell presented a poster at #ASHG2024 showcasing their work on characterizing skeletal dysplasias in Colombian population using VarSome Clinical! 🧬
About us
VarSome is a search engine, aggregator and impact analysis tool for human genetic variation and a community-driven project aiming at sharing global expertise on human variants. It renders and displays a detailed annotation of the queried variant, including multiple notations, predicted pathogenicity status from a variety of tools, genomic context, as well as information from 100+ public and commercial databases. It allows users to mark the pathogenicity of variants and to link variants to specific phenotypes, diseases and publications. Finally, it provides an automated pathogenicity assessment consistent with the widely accepted ACMG guidelines. It therefore provides a powerful analysis resource as well as a repository for the accumulated global knowledge of the genomics community. From a technical point of view, it allows convenient programmable single-point interface for accessing all its data.
- Website
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http://varsome.com
External link for VarSome
- Industry
- Biotechnology Research
- Company size
- 11-50 employees
- Headquarters
- Lausanne, Vaud
Updates
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#CompoundHeterozygosity occurs when a person inherits two different altered copies of the same #gene. In a cis configuration, both variants are on the same #chromosome. In a trans configuration, each variant is on a different chromosome. Compound heterozygosity can cause #geneticdisorders if the effect of both variants disrupts normal function of the gene. The penetrance of the disease may be lower compared to that found in individuals with homozygous deleterious mutations. Diseases associated with compound heterozygosity include Phenylketonuria, Tay-Sachs disease, and Sickle cell syndromes. Being able to detect compound heterozygous variants is an important part of #diagnostic decision making, and something VarSome Clinical supports.
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📣Todavía tienes una última oportunidad para inscribirte en este Bootcamp: Innovación y tendencias en genética avanzada, organizado por Genotipia. Únete a nuestra sesión: Introducción a la bioinformática, anotación de variantes y ejercicio práctico de clasificación de variantes, con Charles E. Chapple (CSO de Saphetor). 🧬Utiliza el código VARSOME20 para conseguir un 20% de descuento comprando tu entrada aquí: https://lnkd.in/epHn5W-J Nota: tendrás acceso a las sesiones grabadas durante los 15 días de después!
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We don’t just give you an answer. We help you understand the reasoning and evidence behind it. Our #variant classifiers show you exactly which rules have been triggered and why. Adjust them manually, and see the impact on predicted #pathogenicity in real-time. No black box here - just evidence at work. Try it out today: https://lnkd.in/dXtxrfRW
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Spinal muscular atrophy, cystic fibrosis, hemoglobinopathies, fragile X syndrome, Tay-Sachs disease... What do all of these have in common? They’re all conditions that should be considered for carrier screening in the context outlined in the American College of Obstetricians and Gynecologists recommendations on the topic (https://lnkd.in/dgekaKHF) #CarrierScreening is an important part of modern reproductive health and involves careful communication of information to potential partners. For such an important result, you should have confidence in your #NGS analysis platform. VarSome Clinical includes an advanced algorithmic filter for carrier screening to help you assess carrier status, safe in the knowledge that you are using a CE-marked and #IVDR-compliant solution fit for clinical use.
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📣Big Announcement! 📣 VarSome Clinical is now one of the first bioinformatics platforms to achieve CE-IVDR certification, showcasing how our NGS data analysis solution adheres to the highest safety and effectiveness standards for medical devices.
🚀 Exciting News 🚀 We are thrilled to announce that VarSome Clinical is now CE-IVDR certified. This certification is a major milestone not only for Saphetor, but also the clinical genomics field, as it showcases how VarSome Clinical, our #NGS data analysis solution, adheres to the highest standards of safety and effectiveness for medical devices. We are incredibly proud of our team’s hard work and dedication that managed to position VarSome Clinical among the first #bioinformatics platforms to achieve a CE mark under #IVDR. Read the press release here: https://lnkd.in/dWMV3xCH
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Did you know that VarSome Clinical includes updated #PanelApp gene lists for you to filter by? PanelApp includes all of the gene panels related to genomic tests listed in the NHS Genomic Test Directory and the virtual gene panels used in the 100,000 Genomes Project. These panels are constantly reviewed by #raredisease experts around the world to help gain a consensus view of which genes have enough evidence to be included on a diagnostic virtual gene panel. Interested in finding out how to run a virtual gene panel analysis and make use of PanelApp gene lists with VarSome Clinical? Get in touch for a demo: https://lnkd.in/dXtxrfRW
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What do you like about VarSome Premium? Our users are sharing their experience with us.💡 Try it our yourself today and benefit from additional data sources, such as OMIM, LOVD, PharmGKB, and more: https://lnkd.in/dXtxrfRW
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If your data can't leave your borders, or your organization has specific obligations regarding safeguarding data, VarSome Clinical has you covered. We offer different cloud deployment options, including our latest AWS cloud deployment in the United Arab Emirates.🇨🇭🇪🇺🇺🇸🇦🇪 We also support on-premise installation upon request. We work around you to ensure data protection compliance. Find out more: https://lnkd.in/dXtxrfRW
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We are expanding our network of distributors so we can support our customers wherever they are. If you're looking for an #NGS analysis solution that will provide you local support, let us know: https://lnkd.in/dXtxrfRW
We're proud to be expanding our map of distributors! Interested in joining our network? Let us know at sales@varsome.com See the full list of distributors here: https://lnkd.in/e-nmS42x
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