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....

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Short Report
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

Internet

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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