Genome Application

Today we want to share one of the most interesting projects we have worked on in recent months. We have developed a genetic disease search application for a healthcare company based on the patient’s symptoms and family history.

How do we conduct this search? The search is based on the genomic database of the OMIM (Online Mendelian Inheritance in Man), which is one of the most widely used public sources for genomic research in the world. But the process is not just a simple search. Prior to using this data, it was necessary to restructure it, as well as performing a normalization of symptoms according to UMLS and HPO standards.

Why was this previous work necessary? To facilitate the search and diagnosis process for users. Thanks to this work, symptom hierarchies are established, giving greater importance to certain symptoms, and searches can be done using synonyms commonly used in the specific healthcare specialty of the client company, making the search easier and providing more accurate results.

In addition, this application:
• Allows for patient record management
• Allows for the creation of multiple clinics, each with its own private space.
• Enables the addition of OMIM catalog information to the patient record to obtain a list of genes and phenotypes commonly associated with the patient’s symptoms.

Did you find this interesting? We certainly did.

Do you have any needs or challenges you don’t know how to tackle? We are delighted to be put to the test. Contact us.

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