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

ABSTRACT:

Background

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 regions (DMRs) usually rely on inter-group (e.g., case versus control) comparisons. However, these tools might perform suboptimally in the context of rare diseases and multilocus imprinting disturbances due to small cohort sizes and inter-patient heterogeneity. Therefore, there is a need to provide a simple but statistically robust pipeline for scientists and clinicians to perform diffe

SUBMITTER: Grolaux R 

PROVIDER: S-EPMC9758859 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature