.png){kind=icon}
.png){kind=icon}
Return
Inversion polymorphism in a complete human genome assembly
.png){kind=icon}
OA
AI
DOI：10.1186/s13059-023-02919-8.png)
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
The telomere-to-telomere (T2T) complete human reference has significantly improved our ability to characterize genome structural variation. To understand its impact on inversion polymorphisms, we remapped data from 41 genomes against the T2T reference genome and compared it to the GRCh38 reference. We find a similar to 21% increase in sensitivity improving mapping of 63 inversions on the T2T reference. We 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. Analysis of 10 additional samples reveals novel rare inversions at chromosomes 15q25.2, 16p11.2, 16q22.1-23.1, and 22q11.21.
Keywords:
Genomic structural variation
Inversion
Pathogenic copy number variant
T2T-CHM13
Pericentromeric
AI Summary
Key information extracted from the uploaded paper, including a brief overview, abstract, background, key highlights, visual analysis, and future outlook.
Journal
G
IF:
9.4
Papers:
6.4K
Citations:
7.3W
View more organizations