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Complex mosaic structural variations in human fetal brains

Somatic mosaicism, manifesting as single nucleotide variants (SNVs), mobile element insertions, and structural changes in the DNA, is a common phenomenon in human brain cells, with potential functional consequences. Using a clonal approach, we previously detected 200–400 mosaic SNVs per cell in thre...

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Detalles Bibliográficos
Autores principales: Sekar, Shobana, Tomasini, Livia, Proukakis, Christos, Bae, Taejeong, Manlove, Logan, Jang, Yeongjun, Scuderi, Soraya, Zhou, Bo, Kalyva, Maria, Amiri, Anahita, Mariani, Jessica, Sedlazeck, Fritz J., Urban, Alexander E., Vaccarino, Flora M., Abyzov, Alexej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7706730/
https://www.ncbi.nlm.nih.gov/pubmed/33122304
http://dx.doi.org/10.1101/gr.262667.120