Article

Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits

2021-07-26

Abstract excerpt

Some genetic diseases (“digenic traits”) are due to the interaction between two DNA variants, which presumably reflects biochemical interactions. For example, certain forms of Retinitis Pigmentosa, a type of blindness, occur in the presence of two mutant variants, one each in the ROM1 and RDS genes, while occurrence of only one such variant results in a normal phenotype. Detecting variant pairs underly...

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Literature Corpus work: 47741af4-63b3-56d0-844b-fd5d71fb0275
DOI: 10.20944/preprints202107.0568.v1

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