Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.

ABSTRACT: Background: Rare diseases (RDs) and neurodevelopmental disorders (NDDs) remain under-researched due to their low prevalence, leaving significant gaps in diagnostic strategies. Beyond next-generation sequencing, epigenetic profiling and particularly episignatures have emerged as a promising complementary diagnostic tool and for reclassifying variants of uncertain significance (VUS). However, clinical implementation remains limited, hindered by non-standardized methodologies and restricted data sharing that impede the development of sufficiently large datasets for robust episignature development. Methods: We conducted a systematic literature review following PRISMA 2020 guidelines to identify all studies reporting episignatures published between 2014 and 2025. The review summar

SUBMITTER: Alegret-Garcia A 

PROVIDER: S-EPMC12730964 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature