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Accurate variant interpretation depends on access to representative population frequency data. In VarSome v13.18, we’ve expanded our population frequency resources through the integration of KRIBB KOVA and ToMMo jMorp, which offer population allele...
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In recent decades, advances in technology, healthcare, sanitation, and nutrition have led to a dramatic increase in human life expectancy. Many diseases that once claimed millions of lives are now treatable or even entirely preventable, and improved...
Variants of uncertain significance (VUS) are the most frequent outcome in germline genetic testing, with almost 30% of patients receiving only VUS results. This delays clinical decisions and forces manual review, complicating the interpretation of...
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Each year, International Programmers’ Day is marked on the 256th day of the calendar. This number is chosen because 256 is both the total number of values an eight-bit byte can represent and the largest power of 2 below 365. Depending on the year,...
Community Technology Awareness Days
Wong M, Liew B, Hum M, Lee NY, Lee ASG. Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets. Sci Rep. 2025;15(1):13697. doi:10.1038/s41598-025-97047-7
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Genomics and the Future of Maternal and Newborn Health: Closing Gaps, Saving Lives
Community VarSome.com News Awareness Days Oncology
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Saphetor caught up with Constantia Aristidou from The Cyprus Institute of Neurology & Genetics (CING), that highlighted the breadth and scope of VarSome Clinical in their recently published paper; Exploring the Genetic Causality of Discordant...
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New York and Lausanne, Switzerland - January 10, 2019 - Saphetor SA, the creator of VarSome, announced today a partnership with the Englander Institute for Precision Medicine at Weill Cornell Medicine, the creator of Precision Medicine Knowledgebase...
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VarSome thriving community will soon reach 100,000 users, a significant milestone, and we’d like to thank you for your continuous use of the platform.
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