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New software tool could help doctors diagnose genetic diseases

An open-source software tool referred to as Mendel,MD could help doctors analyze sufferers’ genetic knowledge so as to diagnose diseases brought on by mutations. Developed by Raony Cardenas and colleagues at Universidade Federal de Minas Gerais, Brazil, the tool is introduced in a brand new research in PLOS Computational Biology.

Diseases brought on by genetic mutations might be difficult to diagnose. Sequencing of a affected person’s complete genome or exome – the a part of the genome used to construct protein – now provides an efficient technique to pinpoint wrongdoer mutations and make an correct analysis. However, the software wanted to research these sequences is usually pricey or too complicated for a lot of doctors to make use of.

To handle these points, Cardenas’ workforce developed Mendel,MD particularly for straightforward use by physicians, freed from cost. Users add a affected person’s entire genome or exome sequence by way of a web-based interface, and the sequence is analyzed and filtered utilizing numerous computational instruments and databases of disease-causing mutations. The result’s an inventory of candidate mutations that may be clinically investigated to reach at a ultimate analysis.

The researchers validated Mendel,MD utilizing previously-published medical instances. They additionally had it examined by researchers and college students at their very own college, in addition to at GENE – Núcleo de Genética Médica, Brazil, and the Children’s University Hospital in Dublin, Ireland. The outcomes recommend that Mendel,MD is dependable, easy, and environment friendly in figuring out disease-causing mutations in sufferers.

“We designed the software to be simple and intuitive enough to be used directly by physicians, even those who are not proficient in bioinformatics,” says research co-author Sérgio Pena. “We expect Mendel,MD to be adopted in other research centers and laboratories around the world.”

Mendel,MD might be accessed at www.mendelmd.org.

Article: Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders, G. C. C. L. Cardenas R, D. Linhares N, L. Ferreira R, Pena SDJ, PLOS Computational Biology, doi: 10.1371/journal.pcbi.1005520, revealed eight June 2017.

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