The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.
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ABSTRACT:
SUBMITTER: Shu L
PROVIDER: S-EPMC9858967 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
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The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.
Shu Li L Maroilley Tatiana T Tarailo-Graovac Maja M
Genes 20230112 1
Complex genetic disease mechanisms, such as structural or non-coding variants, currently pose a substantial difficulty in frontline diagnostic tests. They thus may account for most unsolved rare disease patients regardless of the clinical phenotype. However, the clinical diagnosis can narrow the genetic focus to just a couple of genes for patients with well-established syndromes defined by prominent physical and/or unique biochemical phenotypes, allowing deeper analyses to consider complex genet ...[more]
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