@article{fbe30ebecb854857884c9d764fcbdc78,
title = "DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants",
abstract = "Accurate diagnosis for patients living with neurodevelopmental disorders is often met with numerous challenges, related to the ambiguity of findings and lack of specificity in genetic variants leading to pathology. Genome-wide DNA methylation analysis has been used to develop highly sensitive and specific 'episignatures' as biomarkers capable of differentiating and classifying complex neurodevelopmental disorders. In this study we describe distinct episignatures for KAT6A syndrome, caused by pathogenic variants in the lysine acetyltransferase A gene (KAT6A), and for the two neurodevelopmental disorders associated with lysine acetyl transferase B (KAT6B). We demonstrate the ability of our models to differentiate between highly overlapping episignatures, increasing the ability to effectively identify and diagnose these conditions.",
keywords = "DNA methylation, KAT6A, epigenetics, episignature",
author = "Niels Vos and Jack Reilly and Elting, {Mariet W.} and Campeau, {Philippe M.} and David Coman and Zornitza Stark and Tan, {Tiong Yang} and Amor, {David J.} and Simran Kaur and Miya StJohn and Morgan, {Angela T.} and Kamien, {Benjamin A.} and Chirag Patel and Tedder, {Matthew L.} and Giuseppe Merla and Paolo Prontera and Marco Castori and Kai Muru and Felicity Collins and John Christodoulou and Janine Smith and Zeev, {Bruria Ben} and Alessandra Murgia and Emanuela Leonardi and Natacha Esber and Antonio Martinez-Monseny and Didac Casas-Alba and Matthew Wallis and Marcel Mannens and Levy, {Michael A.} and Raissa Relator and Marielle Alders and Bekim Sadikovic",
note = "Funding Information: This work was funded by the government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. Publisher Copyright: {\textcopyright} 2023 Future Medicine Ltd.",
year = "2023",
month = mar,
day = "1",
doi = "https://doi.org/10.2217/epi-2023-0079",
language = "English",
volume = "15",
pages = "351--367",
journal = "Epigenomics",
issn = "1750-1911",
publisher = "Future Medicine Ltd.",
number = "6",
}