Article

OM2Seq: Learning retrieval embeddings for optical genome mapping

2023-11-21

Abstract excerpt

<h4>Motivation</h4> Genomics-based diagnostic methods that are quick, precise, and economical are essential for the advancement of precision medicine, with applications spanning the diagnosis of infectious diseases, cancer, and rare diseases. One technology that holds potential in this field is optical genome mapping (OGM), which is capable of detecting structural variations, epigenomic profiling, and microbial s...

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Literature Corpus work: e7e7093e-f837-5b5d-9fc7-5ae881778c79
DOI: 10.1101/2023.11.20.567868

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