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13 p, 2.2 MB Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR / Puig Font, Marta (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Lerga Jaso, Jon (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Giner Delgado, Carla (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Izquierdo, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Delprat Obeaga, Alejandra (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Gayà Vidal, Magdalena (University of Porto. CIBIO/InBIO Research Center in Biodiversity and Genetic Resources (Portugal)) ; Regan, Jack F. (Digital Biology Center. Bio-Rad Laboratories (USA)) ; Karlin Neumann, George (Digital Biology Center. Bio-Rad Laboratories (USA)) ; Cáceres Aguilar, Mario (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
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. [...]
2020 - 10.1101/gr.255273.119
Genome research, Vol. 30, Issue 5 (May 2020) , p. 724-735  

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