Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

Despite the interest in characterizing genomic variation, the presence of large repeats at the breakpoints hinders the analysis of many structural variants. This is especially problematic for inversions, since there is typically no gain or loss of DNA. Here, we tested novel linkage-based droplet dig...

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Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Puig, Marta, Lerga-Jaso, Jon, Giner-Delgado, Carla, Pacheco, Sarai, Izquierdo, David, Delprat, Alejandra, Gayà-Vidal, Magdalena, Regan, Jack F., Karlin-Neumann, George, Cáceres, Mario
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2020
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7263195/
https://ncbi.nlm.nih.gov/pubmed/32424072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.255273.119
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