Epigenomic Approaches for the Diagnosis of Rare Diseases.
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ABSTRACT:
SUBMITTER: Martinez-Delgado B
PROVIDER: S-EPMC9397041 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
Publications
Epigenomic Approaches for the Diagnosis of Rare Diseases.
Martinez-Delgado Beatriz B Barrero Maria J MJ
Epigenomes 20220727 3
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 ...[more]
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