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The identification and characterisation of genes underlying Mendelian disorders has been responsible for the rapid advances in our understanding of human disease over the last 20 years, and has considerable impact on our understanding of complex common diseases that are currently considered to be idiopathic.
Recent advances in genetic technologies mean we now have the ability to sequence entire exomes and genomes in a rapid and cost effective manner. This means gene discovery can now be effectively performed in families with few affected individuals and sib-pairs, both previously underpowered for such analysis. Indeed, we are rapidly approaching the point where whole exome/genome sequencing of individuals will be a cost-effective method for diagnosis of many disorders. These genome sequence datasets have enormous potential for application in the rapidly developing field of personalised medicine. These advances have particular relevance to disorders of the brain, which is a specific area of research interest.
Recent advances in genetic technologies mean we now have the ability to sequence entire exomes and genomes in a rapid and cost effective manner. This means gene discovery can now be effectively performed in families with few affected individuals and sib-pairs, both previously underpowered for such analysis. Indeed, we are rapidly approaching the point where whole exome/genome sequencing of individuals will be a cost-effective method for diagnosis of many disorders. These genome sequence datasets have enormous potential for application in the rapidly developing field of personalised medicine. These advances have particular relevance to disorders of the brain, which is a specific area of research interest.
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论文共 224 篇作者统计合作学者相似作者
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Lars Mohren,Friedrich Erdlenbruch,Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes,Sabine Kaya,Christopher Schröder,Andreas Thieme,Marc Sturm,Joohyun Park,Agatha Schlüter,Montserrat Ruiz,
medrxiv(2024)
Max Borsche, Mirja Thomsen,David J. Szmulewicz, Bente Lübbers,Frauke Hinrichs,Paul J. Lockhart,Katja Lohmann,Christoph Helmchen,Norbert Brüggemann
Journal of Neurologyno. 2 (2024): 1023-1027
Jean-Loup Méreaux,Claire-Sophie Davoine,David Pellerin,Giulia Coarelli,Marie Coutelier,Claire Ewenczyk, Marie-Lorraine Monin,Mathieu Anheim,Isabelle Le Ber,Stéphane Thobois, Florent Gobert,Léna Guillot-Noël,
EBioMedicine (2024): 104931
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Brain communicationsno. 2 (2024): fcae056-fcae056
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don,George McGillivray,Tae-Ik Choi, Carolyn A Allan,David J Amor,Siddharth Banka,Donald G Basel, Laura D Buch, Deanna Alexis Carere,Renée Carroll,
Molecular genetics and metabolismno. 1 (2024): 108360-108360
American journal of human geneticsno. 12 (2023): 2015-2028
Neural Regeneration Researchno. 11 (2023): 2389-2390
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