2026-08-13T06:09:28Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/152312025-06-17T11:14:56Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616
Repisalud
author
Martinez-Delgado, Beatriz
author
Barrero, Maria
funder
Instituto de Salud Carlos III
2022-11-28T15:13:29Z
2022-11-28T15:13:29Z
2022-07-27
Epigenomes. 2022 Jul 27;6(3):21.
10.3390/epigenomes6030021
2075-4655
Epigenomes
35997367
http://hdl.handle.net/20.500.12105/15231
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.
eng
Epigenetics
Molecular diagnosis
Rare diseases
Transcriptomics
Epigenomic Approaches for the Diagnosis of Rare Diseases
research article
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EpigenomicApproachesForThe_2022.pdf
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https://repisalud.isciii.es/bitstreams/35212254-2008-434d-b1ac-85ae924e450d/download
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EpigenomicApproachesForThe_2022.pdf.txt