Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR
Marta Puig, Jon Lerga-Jaso, Carla Giner-Delgado, Sarai Pacheco, David Izquierdo, Alejandra Delprat, Magdalena Gayà‐Vidal, Jack F. Regan, George A. Karlin-Neumann, Mario Cáceres
The paper validates inversions in the human genome using droplet digital PCR, showing their frequency, recurrence, and functional effects across populations.
Genome Research · May 1, 2020Peer-reviewedGenomics