Genomics

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Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders


ABSTRACT: Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders

PROVIDER: PRJNA703961 | ENA |

REPOSITORIES: ENA

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Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.

Velasco Guillaume G   Ulveling Damien D   Rondeau Sophie S   Marzin Pauline P   Unoki Motoko M   Cormier-Daire Valérie V   Francastel Claire C  

International journal of molecular sciences 20210403 7


DNA methylation (DNAme) profiling is used to establish specific biomarkers to improve the diagnosis of patients with inherited neurodevelopmental disorders and to guide mutation screening. In the specific case of mendelian disorders of the epigenetic machinery, it also provides the basis to infer mechanistic aspects with regard to DNAme determinants and interplay between histone and DNAme that apply to humans. Here, we present comparative methylomes from patients with mutations in the de novo DN  ...[more]

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