Y chromosome sequence and epigenomic reconstruction across human populations

Recent advances in long-read sequencing technologies have allowed the generation and curation of more complete genome assemblies, enabling the analysis of traditionally neglected chromosomes, such as the human Y chromosome (chrY). Native DNA was sequenced on a MinION Oxford Nanopore Technologies seq...

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Detalles Bibliográficos
Autores: Esteller Cucala, Paula, Palmada Flores, Marc, Kuderna, Lukas, 1989-, Fontseré Alemany, Clàudia, 1992-, Serres Armero, Aitor, 1992-, Dabad, Marc, Torralvo, María, Faella, Armida, Ferrández Peral, Luis, 1991-, Llovera Nadal, Laia, Fornas Carreño, Oscar, Julià, Eva, Ramírez, Erika, González, Irene, Hecht, Jochen, Lizano González, Esther, 1974-, Juan, David, Marquès i Bonet, Tomàs, 1975-
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/57856
Acceso en línea:http://hdl.handle.net/10230/57856
http://dx.doi.org/10.1038/s42003-023-05004-9
Access Level:acceso abierto
Palabra clave:Comparative genomics
Epigenomics
Descripción
Sumario:Recent advances in long-read sequencing technologies have allowed the generation and curation of more complete genome assemblies, enabling the analysis of traditionally neglected chromosomes, such as the human Y chromosome (chrY). Native DNA was sequenced on a MinION Oxford Nanopore Technologies sequencing device to generate genome assemblies for seven major chrY human haplogroups. We analyzed and compared the chrY enrichment of sequencing data obtained using two different selective sequencing approaches: adaptive sampling and flow cytometry chromosome sorting. We show that adaptive sampling can produce data to create assemblies comparable to chromosome sorting while being a less expensive and time-consuming technique. We also assessed haplogroup-specific structural variants, which would be otherwise difficult to study using short-read sequencing data only. Finally, we took advantage of this technology to detect and profile epigenetic modifications among the considered haplogroups. Altogether, we provide a framework to study complex genomic regions with a simple, fast, and affordable methodology that could be applied to larger population genomics datasets.

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