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• W4307846315 abstract "Abstract Structural variants are a common cause of disease and contribute to a large extent to inter-individual variability, but their detection and interpretation remain a challenge. Here, we investigate 11 individuals with complex genomic rearrangements including germline chromothripsis by combining short- and long-read genome sequencing (GS) with Hi-C. Large-scale genomic rearrangements are identified in Hi-C interaction maps, allowing for an independent assessment of breakpoint calls derived from the GS methods, resulting in >300 genomic junctions. Based on a comprehensive breakpoint detection and Hi-C, we achieve a reconstruction of whole rearranged chromosomes. Integrating information on the three-dimensional organization of chromatin, we observe that breakpoints occur more frequently than expected in lamina-associated domains (LADs) and that a majority reshuffle topologically associating domains (TADs). By applying phased RNA-seq, we observe an enrichment of genes showing allelic imbalanced expression (AIG) within 100 kb around the breakpoints. Interestingly, the AIGs hit by a breakpoint (19/22) display both up- and downregulation, thereby suggesting different mechanisms at play, such as gene disruption and rearrangements of regulatory information. However, the majority of interpretable genes located 200 kb around a breakpoint do not show significant expression changes. Thus, there is an overall robustness in the genome towards large-scale chromosome rearrangements." @default.
• W4307846315 created "2022-11-06" @default.
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• W4307846315 date "2022-10-29" @default.
• W4307846315 modified "2023-10-17" @default.
• W4307846315 title "Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes" @default.
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• W4307846315 doi "https://doi.org/10.1038/s41467-022-34053-7" @default.
• W4307846315 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36309531" @default.
• W4307846315 hasPublicationYear "2022" @default.
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