Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue

Somatic variants are a major cause of human disease, including neurological disorders like focal epilepsies, but can be challenging to study due to their mosaicism in bulk tissue biopsies. Coupling single-cell genotype and transcriptomic data has potential to provide insight into the role somatic va...

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Detalles Bibliográficos
Autores principales: Townsend, Sydney E., Westfall, Jesse J., Navarro, Jason B., Koboldt, Daniel C., Mardis, Elaine R., Miller, Katherine E., Bedrosian, Tracy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834227/
https://www.ncbi.nlm.nih.gov/pubmed/36631516
http://dx.doi.org/10.1038/s41598-023-27700-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834227/
https://www.ncbi.nlm.nih.gov/pubmed/36631516
http://dx.doi.org/10.1038/s41598-023-27700-6

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