GMI News

GMI’s Raony Guimaraes Develops Mendelian Disease Diagnosis Tool

By June 13, 2017 No Comments

raony-guimaraesGMI Bioinformatician, Raony Guimaraes, was featured on GenomeWeb for his work alongside a team of colleagues from the Federal University of Minas Gerais in Brazil who developed an open-source software tool to enable researchers and clinicians to home in on disease-causing variants for Mendelian disorders in genomic data.

Their tool, called MendelMD, analyses and annotates exome or genome data, compares it against a number of databases, and filters it to identify a list of candidate disease-causing mutations.