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oai:repisalud.isciii.es:20.500.12105/152312025-06-17T11:14:56Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Martinez-Delgado, Beatriz author Barrero, Maria author 2022-07-27 Rare diseases affect more than 300 million people worldwide. Diagnosing rare diseases is a major challenge as they have different causes and etiologies. Careful assessment of clinical symptoms often leads to the testing of the most common genetic alterations that could explain the disease. Patients with negative results for these tests frequently undergo whole exome or genome sequencing, leading to the identification of the molecular cause of the disease in 50% of patients at best. Therefore, a significant proportion of patients remain undiagnosed after sequencing their genome. Recently, approaches based on functional aspects of the genome, including transcriptomics and epigenomics, are beginning to emerge. Here, we will review these approaches, including studies that have successfully provided diagnoses for complex undiagnosed cases. Epigenomes. 2022 Jul 27;6(3):21. 10.3390/epigenomes6030021 2075-4655 Epigenomes 35997367 http://hdl.handle.net/20.500.12105/15231 Epigenetics Molecular diagnosis Rare diseases Transcriptomics Epigenomic Approaches for the Diagnosis of Rare Diseases