Resolving missing human polymorphic inversions and other complex variants from ultralong read data.

Ultra-long read sequencing reveals 612 human inversions, tripling known polymorphic IR-mediated inversions and uncovering over 300 additional structural variants.

• Why it matters: Understanding complex structural variants like inversions is crucial for insights into human genetic diversity and disease, but large repeats have hindered their characterization.
• What they did: Using Oxford Nanopore Technologies long reads and a new bioinformatic tool, the study analyzed 54 individuals, successfully genotyping 87-99% of inversions and identifying complex rearrangements.
• The result: This work enhances the detection of elusive human genomic variants, providing a comprehensive benchmark and demonstrating nanopore sequencing's power to resolve missing and complex structural variations.