DiGAS: Differential gene allele spectrum as a descriptor in genetic studies.

Abstract excerpt

Diagnosing individuals with complex genetic diseases is a challenging task. Computational methodologies exploit information at the genotype level by taking into account single nucleotide polymorphisms (SNPs) leveraging the results of genome-wide association studies analysis to assign a statistical significance to each SNP. Recent methodologies extend such an approach by aggregating SNP significance at the genetic...

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