Increased mutation and gene conversion within human segmental duplications

Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data(1,2). Here we constructed 1:1 unambiguous alignments spanning high-identity SDs across 102 human haplotypes and compared the patter...

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Detalles Bibliográficos
Autores principales: Vollger, Mitchell R., Dishuck, Philip C., Harvey, William T., DeWitt, William S., Guitart, Xavi, Goldberg, Michael E., Rozanski, Allison N., Lucas, Julian, Asri, Mobin, Munson, Katherine M., Lewis, Alexandra P., Hoekzema, Kendra, Logsdon, Glennis A., Porubsky, David, Paten, Benedict, Harris, Kelley, Hsieh, PingHsun, Eichler, Evan E.
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/PMC10172114/
https://www.ncbi.nlm.nih.gov/pubmed/37165237
http://dx.doi.org/10.1038/s41586-023-05895-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172114/
https://www.ncbi.nlm.nih.gov/pubmed/37165237
http://dx.doi.org/10.1038/s41586-023-05895-y

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