Mendel, MD – An open-source software to recognize the genetic disorder in patients


What is Mendel, MD software tool?

For early detection of genetic disorders, scientists and researchers have developed a very simple and instinctive open-source software tool named as Mendel, MD. This software would easily help the doctors for analyzing patients’ genetic data in order to diagnose different kinds of diseases inherited during birth.

Who made the Mendel, MD software tool?

This smart tool has been designed by Raony Cardenas and his colleagues at the institution – Universidade Federal de Minas Gerais located in Brazil. The outstanding software tool Mendel, MD has also been presented in the prestigious journal PLOS computational biology.

What is the idea behind making of this software tool?

One of the makers of this innovative device, named Sergio Pena stated that the idea behind making this device was to form a simple yet instinctive solution that doctors can easily use to detect inherited diseases at an early age. They don’t need to be well-versed with biotechnology or bioinformatics can also handle it easily. So, this tool was basically designed to serve the humanity as it is an open interface software which is completely free of cost.

Currently, there are some commercial tools available in the markets that are used to address the same kind of problem. Some of the prominent names are as follows:

  • Variant Analysis from Ingenuity,
  • VarSeq from Golden Helix and
  • Sequence Miner from Wuxi NextCode.

Also, there are some other open source software tools as well for the same purpose whose names follow:

  • Seqr,
  • VCF-Miner,
  • BiERapp and
  • BrowseVCF

All of these mentioned software tools also aim to provide a clean Graphical User Interface to simplify the analysis of the genetic information of any patient.

Below is the table that provides a full comparison of Mendel, MD with the other similar tools available in the market.

The diseases which are caused by genetic mutations can be really challenging to diagnose the alterations in the human body. But things have evolved much now, like the sequencing pattern of a patient’s entire genome or exome (that is itself part of genome used to build up the proteins) is used now for making up an effective strategy that would identify the mutations in the patient’s body, pinpoint it at the desired time and would make one the accurate decisions and approximations.

Similarly, this kind of software which works for the recognition of genetic disorders are needed to analyze some sequence which has been caused by changing the structure of genes that is really expensive or very complex when normal doctor are practicing for it, So, the makers wanted to make it as much as simple they could and very cheap to facilitate all the physicians.

How was this software tool tested?

Initially, the researcher and the student who were in the team tested the tool in their own university premises. Then afterward, it was tested at two different locations named as GENE – Núcleo de Genética Médica in Brazil and the Children’s University Hospital in Dublin, Ireland.

The users had to upload their whole genome or exome’s sequence pattern through a web-interface portal. This amazing sequence is analyzed and is extracted by using the different computational tools and databases for the diseases that are responsible for making mutations.

The results derived from the tests of this software device which is named as Mendel, MD claimed it to be reliable, simple and proficient in recognizing the causes and diseases that make mutations in the patients. This result consists of a list which has a list of candidate mutations that can be clinically investigated in order to reach towards the final diagnosis.

Future plan regarding this software tool

Sergio Pena and rest of the team want that Mendel, MD should be adopted and used widely in other research centers and laboratories around the world for the better purposes.


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