Article

Inversion polymorphism in a complete human genome assembly

2022-10-06

Abstract excerpt

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 sensiti...

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Literature Corpus work: 46ff0837-dfb0-5147-bcd1-f3c9f1211096
DOI: 10.1101/2022.10.06.511148

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