Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder

Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder

<p dir="ltr">Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare diseases. We used untargeted metabolomics and whole-genome sequencing (WGS) to gain a more comprehensive understanding...

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Main Author: Rulan Shaath (17112852) (author)
Other Authors: Aljazi Al-Maraghi (14056975) (author), Haytham Ali (6896447) (author), Jehan AlRayahi (17346976) (author), Adam D. Kennedy (6677894) (author), Karen L. DeBalsi (5698928) (author), Sura Hussein (14152557) (author), Najwa Elbashir (18288934) (author), Sujitha S. Padmajeya (14152698) (author), Sasirekha Palaniswamy (14152563) (author), Sarah H. Elsea (6677915) (author), Ammira A. Akil (19326085) (author), Noha A. Yousri (1392577) (author), Khalid A. Fakhro (3158862) (author)
Published: 2024
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Medical biochemistry and metabolomics
Neurosciences
multi-omics approaches
untargeted metabolomics
whole-genome sequencing
rare complex disease
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