The paper characterizes common human polymorphic inversions and their functional effects, showing they are enriched in functional variants and associated with phenotypic traits.

medRxiv · Aug 5, 2026 · PreprintGenetic & Genomic Medicine

Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project

Siegfried Schloissnig, Samarendra Pani, Jana Ebler, Carsten Hain, Vasiliki Tsapalou, Arda Söylev, Patrick Hüther, Hufsah Ashraf, Timofey Prodanov, Mila Asparuhova, Hugo Magalhães, Wolfram Höps, Jesús Emiliano Sotelo-Fonseca, Tomas W. Fitzgerald, Walter Santana-Garcia, , Jan O. Korbel

The paper uses long-read sequencing to characterize structural variants in 1,019 samples from the 1000 Genomes Project, identifying 167,291 sequence-resolved SVs and highlighting their genomic and functional implications.

Nature · Jul 23, 2025Peer-reviewedGenomics

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