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Insertion variants missing in the human reference genome are widespread among human populations

BACKGROUND: Structural variants comprise diverse genomic arrangements including deletions, insertions, inversions, and translocations, which can generally be detected in humans through sequence comparison to the reference genome. Among structural variants, insertions are the least frequently identif...

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Detalles Bibliográficos
Autores principales: Lee, Young-gun, Lee, Jin-young, Kim, Junhyong, Kim, Young-Joon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666470/
https://www.ncbi.nlm.nih.gov/pubmed/33187521
http://dx.doi.org/10.1186/s12915-020-00894-1