New software tool could help doctors diagnose genetic diseases

Diseases caused by genetic mutations can be challenging to diagnose. Sequencing of a patient's entire genome or exome -- the part of the genome used to build proteins -- now offers an effective strategy to pinpoint culprit mutations and make an accurate diagnosis. However, the software needed to analyze these sequences is often costly or too complex for many doctors to use.

To address these issues, Cardenas' team developed Mendel,MD specifically for easy use by physicians, free of charge. Users upload a patient's whole genome or exome sequence via a web-based interface, and the sequence is analyzed and filtered using various computational tools and databases of disease-causing mutations. The result is a list of candidate mutations that can be clinically investigated to arrive at a final diagnosis.

The researchers validated Mendel,MD using previously-published clinical cases. They also had it tested by researchers and students at their own university, as well as at GENE -- Núcleo de Genética Médica, Brazil, and the Children's University Hospital in Dublin, Ireland. The results suggest that Mendel,MD is reliable, simple, and efficient in identifying disease-causing mutations in patients.

"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 study co-author Sérgio Pena. "We expect Mendel,MD to be adopted in other research centers and laboratories around the world."