2026-04-17T18:49:41Zhttps://recercat.cat/oai/request

oai:recercat.cat:10230/578562025-12-12T02:27:25Zcom_2072_6col_2072_452952

00925njm 22002777a 4500 dc Esteller Cucala, Paula author Palmada Flores, Marc author Kuderna, Lukas, 1989- author Fontseré Alemany, Clàudia, 1992- author Serres Armero, Aitor, 1992- author Dabad, Marc author Torralvo, María author Faella, Armida author Ferrández Peral, Luis, 1991- author Llovera Nadal, Laia author Fornas Carreño, Oscar author Julià, Eva author Ramírez, Erika author González, Irene author Hecht, Jochen author Lizano González, Esther, 1974- author Juan, David author Marquès i Bonet, Tomàs, 1975- author 2023-09-13T07:12:38Z 2023-09-13T07:12:38Z 2023 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. M.P.-F. has the support of an INPhINIT Retaining Fellowship from “La Caixa” Foundation (ID 100010434) with code LCF/BQ/DR20/11790032. T.M.-B. is supported by funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (grant agreement No. 864203), PID2021-126004NB-100 (MICIIN/FEDER, UE) and Secretaria d’Universitats i Recerca and CERCA Programme del Departament d’Economia i Coneixement de la Generalitat de Catalunya (GRC 2021 SGR 00177). Comparative genomics Epigenomics Y chromosome sequence and epigenomic reconstruction across human populations