Article

Identification of differentially methylated regions in rare diseases from a single patient perspective

2022-09-27

Abstract excerpt

<h4>Background: </h4> DNA methylation (5-mC) is being widely recognized as an alternative in the detection of sequence variants in the diagnosis of some rare neurodevelopmental and imprinting disorders. Identification of alterations in DNA methylation plays an important role in the diagnosis and understanding of the etiology of those disorders. Canonical pipelines for the detection of differentially methylated reg...

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Literature Corpus work: 157984b9-b67a-5671-a4cb-8040c4c38914
DOI: 10.21203/rs.3.rs-2084072/v1

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