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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5 Key Considerations when Selecting a Variant Database

With millions of human genetic variants cited in over 30 million articles, comprehensively searching the medical research for a variant can be like finding a needle in a haystack. This is especially important when a single paper can mean the difference between a variant of uncertain significance (VUS) and a pathogenic variant.

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Genomenon Research Report: Emerging Genomic Variants in 2018

2018 has been another banner year in the progression of Precision Medicine! Year over year, there has been a dramatic rise in the number of scientific studies and initiatives that resulted in meaningful published findings, and 2018 was another record-breaker. To demonstrate trends in genetics and genomics research seen through the lens of scientific publications, …

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Genomic Variant Curation: “The Power of Zero”

As a parent, sometimes the most powerful answer you can give your children is “no”. Once they know where the boundaries are, they just might stop trying to navigate the gray area to find loopholes. The same can be said for genomic variant curation.

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