Oct 4, 2018

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants

Scientific Reports
Imane BoudelliouaRobert Hoehndorf

Abstract

An increasing number of disorders have been identified for which two or more distinct alleles in two or more genes are required to either cause the disease or to significantly modify its onset, severity or phenotype. It is difficult to discover such interactions using existing approaches. The purpose of our work is to develop and evaluate a system that can identify combinations of alleles underlying digenic and oligogenic diseases in individual whole exome or whole genome sequences. Information that links patient phenotypes to databases of gene-phenotype associations observed in clinical or non-human model organism research can provide useful information and improve variant prioritization for genetic diseases. Additional background knowledge about interactions between genes can be utilized to identify sets of variants in different genes in the same individual which may then contribute to the overall disease phenotype. We have developed OligoPVP, an algorithm that can be used to prioritize causative combinations of variants in digenic and oligogenic diseases, using whole exome or whole genome sequences together with patient phenotypes as input. We demonstrate that OligoPVP has significantly improved performance when compared to ...Continue Reading

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References

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Mentioned in this Paper

Research
Genetic Disorders Screening
Genome
Genes
Genetic Pedigree
Whole Exome Sequencing
Genomics
Oligogenic Inheritance
Organism
Analysis

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