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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2020
Teme:
Method
Online dostop: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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