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. Sarah Chisholm launched the BPAN warriors organization 10 months after her own daughter’s …
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.
The New Mastermind Search Interface – Now with Phenotypes
We have made updates to the Mastermind Genomic Search Engine interface to streamline the user experience and prepare the way for some exciting new developments – the first of which is the ability to search by Human Phenotype Ontology (HPO) terms!
Things Only Genomic Scientists Find Funny
Just for fun today, I asked our team to share some things only Genomic Scientists would find funny. Here’s what I got:
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 …
AI-Driven Literature Curation for Determining Genomic Variant Pathogenicity
Mark Kiel, Founder and Chief Science Officer of Genomenon was a featured presenter for the LabRoots Virtual Genetics & Genomics Event on May 8th and 9th, 2019. This is the transcript, slides and video from his talk, which opened the event on Thursday, May 9th.