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Inversion polymorphism in a complete human genome assembly
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....
Autores principales: | Porubsky, David, Harvey, William T., Rozanski, Allison N., Ebler, Jana, Höps, Wolfram, Ashraf, Hufsah, Hasenfeld, Patrick, Paten, Benedict, Sanders, Ashley D., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150506/ https://www.ncbi.nlm.nih.gov/pubmed/37122002 http://dx.doi.org/10.1186/s13059-023-02919-8 |
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