Article

Nanopore sequencing-based episignature detection

2024-04-22

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform about underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, episignature detection requires the use of indirect methylation profiling microarrays. W...

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Literature Corpus work: 528cd373-ff70-5fe9-8f26-cb9f9fa18894
DOI: 10.1101/2024.04.19.24305959

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