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

bioRxiv

May 2, 2018

Imane BoudelliouaRobert Hoehndorf

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Abstract

Purpose: An increasing number of Mendelian disorders have been identified for which two or more variants in one or more genes are required to cause the disease, or significantly modify its severity or phenotype. It is difficult to discover such interactions using existing approaches. Th...read more

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Detection
Genome
Phenotype Determination
Genes
Whole Exome Sequencing
Genetic Markers
Exome
Modulated
Oligogenic Inheritance
Clinical Research
11
4
Paper Details
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OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants

bioRxiv

May 2, 2018

Imane BoudelliouaRobert Hoehndorf

DOI: 10.1101/311654

Abstract

Purpose: An increasing number of Mendelian disorders have been identified for which two or more variants in one or more genes are required to cause the disease, or significantly modify its severity or phenotype. It is difficult to discover such interactions using existing approaches. Th...read more

Mentioned in this Paper

Detection
Genome
Phenotype Determination
Genes
Whole Exome Sequencing
11
4
Paper Details
References
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  • Citations
  • References currently unavailable

    We're still populating references for this paper, please check back later.
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