P667: Bridging the gap between genomic variants and clinical diagnosis: The role of DNA methylation signatures in unsolved cases

Genetics in Medicine Open 2026 Open access

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Authors: Livia Oliveira Loureiro, Gleyson Francisco da Silva Carvalho, Beatriz Martins Wolff, Lucas Liro Vieira, Yanca Gasparini Oliveira, Mariana Ribeiro Costa, Rafaela da Silva Mendes, Rachel Sayuri Honjo, Bekim Sadiković, Leslie Domenici Kulikowski
DOI: 10.1016/j.gimo.2026.104157
Cited by: 0

Abstract

Despite major advances in cytogenomic technologies that have improved the detection of genomic structural and sequence variants, interpretation of their clinical significance remains challenging. A persistent diagnostic gap exists, characterized by a high proportion of variants of uncertain significance (VUS) and unresolved cases even after comprehensive molecular testing. Genome-wide DNA methylation profiling, particularly through disease-specific methylation signatures (Epi-signatures), has emerged as a promising complementary approach to refine variant interpretation and enhance diagnostic yield.

Fields of Study & Subjects

Genomics and Rare Diseases Epigenetics and DNA Methylation Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104157–104157
Publication date
1 January 2026
Language
EN