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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263195/
https://www.ncbi.nlm.nih.gov/pubmed/32424072
http://dx.doi.org/10.1101/gr.255273.119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263195/
https://www.ncbi.nlm.nih.gov/pubmed/32424072
http://dx.doi.org/10.1101/gr.255273.119

Ejemplares similares