DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies | Zendy

Jennifer Kerkhof | Zendy; Gabriella Maria Squeo | Zendy; Haley McConkey | Zendy; Michael A. Levy | Zendy; Maria Rosaria Piemontese | Zendy; Marco Castori | Zendy; Maria Accadia | Zendy; Elisa Biamino | Zendy; Matteo Della Monica | Zendy; Marilena Carmela Di Giacomo | Zendy; Cristina Gervasini | Zendy; Silvia Maitz | Zendy; Daniela Melis | Zendy; Donatella Milani | Zendy; Maria Piccione | Zendy; Paolo Prontera | Zendy; Angelo Selicorni | Zendy; Bekim Sadiković | Zendy; Giuseppe Merla | Zendy

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DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

Author(s) -

Jennifer Kerkhof,

Gabriella Maria Squeo,

Haley McConkey,

Michael A. Levy,

Maria Rosaria Piemontese,

Marco Castori,

Maria Accadia,

Elisa Biamino,

Matteo Della Monica,

Marilena Carmela Di Giacomo,

Cristina Gervasini,

Silvia Maitz,

Daniela Melis,

Donatella Milani,

Maria Piccione,

Paolo Prontera,

Angelo Selicorni,

Bekim Sadiković,

Giuseppe Merla

Publication year - 2021

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1016/j.gim.2021.08.007

Subject(s) - dna methylation , genetics , methylation , biology , computational biology , dna sequencing , dna , bioinformatics , gene , gene expression

Chromatinopathies include more than 50 disorders caused by disease-causing variants of various components of chromatin structure and function. Many of these disorders exhibit unique genome-wide DNA methylation profiles, known as episignatures. In this study, the methylation profile of a large cohort of individuals with chromatinopathies was analyzed for episignature detection.

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