Resolving the full set of human polymorphic inversions and other complex variants from ultra-long read data
Ricardo Moreira-Pinhal, Konstantinos Karakostis, Illya Yakymenko, Oscar Conchillo‐Solé, Maria Díaz-Ros, Andrés Santos, Miquel Àngel Senar, Jaime Martínez-Urtaza, Marta Puig, Mario Cáceres
The paper identifies 612 human inversion variants using ultra-long read sequencing and develops a bioinformatic tool to genotype them across 54 individuals.
bioRxiv · May 27, 2025 · PreprintGenomics