Beyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases

Analysis of coding areas has long been used to study monogenic illnesses, but despite the extensive use of whole-exome sequencing (WES), up to half of suspected cases remain genetically unexplained. Variants outside coding areas can alter splicing, transcript stability, or gene regulation, compromis...

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Autori principali:	Efthalia Moustakli, Nektaria Zagorianakou, Stylianos Makrydimas, Andreas Miltiadous, Alexandros T. Tzallas, George Makrydimas
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2025-12-01
Serie:	Current Issues in Molecular Biology
Soggetti:	noncoding variants monogenic disease whole-genome sequencing splicing regulatory mutations precision medicine
Accesso online:	https://www.mdpi.com/1467-3045/47/12/1038
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