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Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing

Structural variation (SV) is typically defined as variation within the human genome that exceeds 50 base pairs (bp). SV may be copy number neutral or it may involve duplications, deletions, and complex rearrangements. Recent studies have shown SV to be associated with many human diseases. However, s...

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Detalles Bibliográficos
Autores principales: Cook, George W., Benton, Michael G., Akerley, Wallace, Mayhew, George F., Moehlenkamp, Cynthia, Raterman, Denise, Burgess, Daniel L., Rowell, William J., Lambert, Christine, Eng, Kevin, Gu, Jenny, Baybayan, Primo, Fussell, John T., Herbold, Heath D., O’Shea, John M., Varghese, Thomas K., Emerson, Lyska L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961855/
https://www.ncbi.nlm.nih.gov/pubmed/31940362
http://dx.doi.org/10.1371/journal.pone.0226340