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Edge-based Method for Phenotype Similarity: Enhancing Genetic Disease Diagnosis through Graph-based Representation and Analysis

2023-06-08

Abstract excerpt

<title>Abstract</title> <p>Background The rapid development of high-throughput sequencing technology has revolutionized the diagnosis and understanding of genetic diseases. However, the complexity of clinical phenotypes and high genetic heterogeneity make identifying causative genes a daunting task. In this context, developing accurate and efficient methods to measure the similarity between phenotypes and infer...

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Literature Corpus work
06c36135-89b8-5ef6-8304-4a42364b59ee
DOI
10.21203/rs.3.rs-2974322/v1
Open publication

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