Inversion polymorphism in a complete human genome assembly
Porubsky, D.; Harvey, W. T.; Rozanski, A. N.; Ebler, J.; Hoeps, W.; Ashraf, H.; Hasenfeld, P.; Paten, B.; Sanders, A. D.; Marschall, T.; Korbel, J. O.; Eichler, E. E.
Show abstract
The completion of the human genome significantly improved our ability to discover and interpret genome copy number variation. In order to understand its impact on the characterization of inversion polymorphisms, we remapped data from 41 human genomes and 10 new samples against the telomere-to-telomere (T2T) reference genome as compared to the standard GRCh38 reference. Our analysis shows a ~21% increase in sensitivity identifying and improving mapping of 63 inversions. We further identify 26 misorientations within GRCh38, and show that the T2T reference is three times more likely to represent the correct orientation of the major human allele. As a result, we report a significant bias for inversions accumulating within the pericentromeric regions of specific chromosomes and show that functional annotations around inverted regions, such as topological-associated domains, can be better interpreted.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
Similar papers in this journal
- Genome-wide profiling of highly similar paralogous genes using HiFi sequencing 96%
- Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion. 95%
- Impact and characterization of serial structural variations across humans and great apes 95%
Similar papers in this journal
- Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon 95%
- Extraordinary selection on the human X chromosome associated with archaic admixture 94%
- Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements 94%
Similar papers in this journal
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.