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Transposable element insertions in 1000 Swedish individuals

The majority of rare diseases are genetic, and regardless of advanced high-throughput genomics-based investigations, 60% of patients remain undiagnosed. A major factor limiting our ability to identify disease-causing alterations is a poor understanding of the morbid and normal human genome. A major...

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Detalles Bibliográficos
Autores principales: Bilgrav Saether, Kristine, Nilsson, Daniel, Thonberg, Håkan, Tham, Emma, Ameur, Adam, Eisfeldt, Jesper, Lindstrand, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10381067/
https://www.ncbi.nlm.nih.gov/pubmed/37506127
http://dx.doi.org/10.1371/journal.pone.0289346