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Computing Linkage Disequilibrium Aware Genome Embeddings using Autoencoders

2023-11-02

Abstract excerpt

<h4>Motivation</h4> The completion of the human genome has paved the way for genome-wide association studies (GWAS), which have already succeeded in explaining certain proportions of heritability. GWAS are not optimally suited to detect potential non-linear effects in disease risk, possibly hidden in non-additive interactions (epistasis). Alternative methods for epistasis detection using e.g. deep neural networks...

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Literature Corpus work: eba7aea5-fe03-5570-bc22-b3027c6b86c4
DOI: 10.1101/2023.11.01.565013

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