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A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders

15 Jun 2024

Abstract excerpt

Despite the inevitable shift in medical practice towards a deeper understanding of disease etiology and progression through multigenic analysis, the profound historical impact of Mendelian diseases cannot be overlooked. These diseases, such as cystic fibrosis and thalassemia, are characterized by a single variant in a single gene leading to clinical conditions, and have significantly shaped our medical knowledge...

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PMID: 39006921
DOI: 10.1016/j.csbj.2024.06.011

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