Localizing unmapped sequences with families to validate the Telomere-to-Telomere assembly and identify new hotspots for genetic diversity

Although it is ubiquitous in genomics, the current human reference genome (GRCh38) is incomplete: It is missing large sections of heterochromatic sequence, and as a singular, linear reference genome, it does not represent the full spectrum of human genetic diversity. To characterize gaps in GRCh38 a...

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Detalles Bibliográficos
Autores principales: Chrisman, Brianna, He, Chloe, Jung, Jae-Yoon, Stockham, Nate, Paskov, Kelley, Washington, Peter, Petereit, Juli, Wall, Dennis P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691534/
https://www.ncbi.nlm.nih.gov/pubmed/37879860
http://dx.doi.org/10.1101/gr.277175.122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691534/
https://www.ncbi.nlm.nih.gov/pubmed/37879860
http://dx.doi.org/10.1101/gr.277175.122

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