Article

Decoding Complex Genotype-Phenotype Interactions by Discretizing the Genome

2025-12-17

Abstract excerpt

<p>Background: Despite the ease and affordability of genome sequencing in biomedical research, the genetic causes of many diseases or their subtypes remain unknown due to diverse biological mechanisms that complicate genotype-phenotype relationships. Most previous studies have focused on single variants or sets of variants presumed to be directly causal for the disease. However, incomplete penetrance, in which som...

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Literature Corpus work: 40a326bc-aebd-5cc5-9ab7-47860774138f
DOI: 10.37044/osf.io/xhkc3_v1

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