The Importance of Automated Semantic Search for Copy Number Variants (CNVs)

Continuing our discussion on CNV search in Mastermind, we’ll discuss the practical advantages of automated semantic searches, and explore how Mastermind’s powerful algorithm resolves sensitivity and specificity issues associated with multiple CNV nomenclatures.

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Using Technology to Power Pharma and Clinical Genomics with Mike Klein

Genomenon CEO, Mike Klein met with Mike Maddox, host of ASK, to talk about Genomenon’s use of innovative technology to connect medical professionals with the scientific evidence they need to treat rare diseases and cancers.

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Sensitivity versus Specificity for Non-Coding Variants

With our update on June 10, 2020, Mastermind now has greatly enhanced capabilities when searching for intronic and non-coding variants across the medical literature. I’m covering this major enhancement in two blog posts. This first post explains the “why” of the update, the second goes into detail about the “what”.

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Uncovering the Genomic Variant Landscape for Rare Disease BPAN

Beta-propeller Protein-Associated Neurodegeneration, or BPAN, is a rare genetic condition caused by mutations in the WDR45 gene. It is characterized by seizures, complex epileptic encephalopathies, developmental delays, and neurodegenerative symptoms similar to those found in Parkinson’s disease and currently has no cure.

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Curating the Genome to Drive Drug Discovery

Genomenon Founder & Chief Science Officer, Dr. Mark Kiel, was a guest speaker at the 2019 Cutting Edge Drug Discovery & Development Symposium in Ann Arbor, Michigan on ‘Curating the Genome to Drive Drug Discovery’. Below are his slides and a transcript of his talk.

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Genomenon Research Report: Fusion Genes of Clinical Significance in 2019

Fusion genes have long been known to play an important role in the development of cancer. Identifying and documenting each newly discovered fusion is crucial in both patient diagnosis and the development of Precision Medicine. The Genomenon team used the Mastermind Genomic Search Engine to compile a comprehensive knowledgebase of literature regarding gene fusions in …

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