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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Veröffentlicht in:Genome Res
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2020
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Online Zugang: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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