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A phenotype validation and gene prioritization module prior to the analysis run

We have added new features that accelerate the process of selecting genes for the analysis in the germline hereditary disorders workflows. 

Now, when the user enters a patient phenotype as an input, our engine will automatically validate it and create a list of genes related to this phenotype. By expanding the patient’s phenotype description, the algorithm will match an increasingly relevant list of genes associated with the phenotype.

Each type of input will get the appropriate score, based on which our system will prioritize the genes selected for analysis. Phenotype match (score) is a percent of the maximum possible score that is attributed to a gene. For each HPO term and/or phenotype description provided by a physician, the algorithm traverses the phenotype ontology tree searching for a match with each gene and assigning a score based on the distance between the original term and the term that matches the gene. For specific genes provided by a physician, the phenotype match is assigned to be 75%. For specific diseases provided by a physician, the phenotype match is assigned to be 50%. For genes from the gene panel, phenotype match is assigned to be 30%.

The highest score is given to the genes most associated with the patient’s phenotype and the lowest to those associated least.

A use-case example:

Based on the following phenotypic description entered as an input for a hereditary disorders analysis:

Short stature, Failure to thrive, Narrow mouth, Narrow forehead, Anteverted nares, Low-set ears, Optic atrophy, Developmental cataract

IntelliseqFlow created a panel of genes with assigned scores indicating the match with the phenotype:

Once the user accepts the panel, only genes associated with the phenotype will be analyzed – in this case, 959 genes.

See how it works:

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Feeling convinced?

Intelliseq is a team of experienced scientist, geneticists, bioinformaticians and software engineers. We have already solved many problems for our clients globally. Let us help you with yours. 

Our Partners

Learn more about our partners and their use cases from the collaboration.