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Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes

Advancements in sequencing technologies and assembly methods enable the regular production of high-quality genome assemblies characterizing complex regions. However, challenges remain in efficiently interpreting variation at various scales, from smaller tandem repeats to megabase rearrangements, acr...

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Detalles Bibliográficos
Autores principales: Chin, Chen-Shan, Behera, Sairam, Khalak, Asif, Sedlazeck, Fritz J., Sudmant, Peter H., Wagner, Justin, Zook, Justin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406601/
https://www.ncbi.nlm.nih.gov/pubmed/37365340
http://dx.doi.org/10.1038/s41592-023-01914-y