All Posts By

Amy Swearingen

GMI’s Raony Guimaraes Develops Mendelian Disease Diagnosis Tool

By | GMI News | 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 Gerai 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 Mendel,MD, 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.

The Battle to Beat Rare Diseases

By | GMI News | No Comments

pat-kenny-newstalkGMI joins the battle to beat rare disorders in conjunction with Temple Street Hospital with our new study which kicked off yesterday.  This issue was highlighted on The Pat Kenny Show yesterday morning featuring Professor Mary King and Angelina Ryan who is the mother of baby Ava whose life was cut short by a rare epilepsy.  Listen in to the highlights from the programme to learn more.

By continuing to use the site, you agree to the use of cookies. more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close