{"doi":"10.1101/2022.12.02.518894","title":"Y chromosome sequence and epigenomic reconstruction across human populations","abstract":"Abstract 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 7 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 amongst 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.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2022,"id":313556,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":0.0,"corpus_rank":10062,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.8879,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":944350,"name":"Marc Palmada‐Flores","orcid":"0000-0003-0246-5226","position":1,"is_corresponding":false},{"id":228206,"name":"Lukas F. K. Kuderna","orcid":"0000-0002-9992-9295","position":2,"is_corresponding":false},{"id":866063,"name":"Claudia Fontsere","orcid":"0000-0003-2233-6026","position":3,"is_corresponding":false},{"id":805389,"name":"Aitor Serres‐Armero","orcid":"0000-0003-1679-811X","position":4,"is_corresponding":false},{"id":91102,"name":"Marc Dabad","orcid":"0000-0002-6094-747X","position":5,"is_corresponding":false},{"id":1011783,"name":"María Torralvo","orcid":"0000-0003-2267-1406","position":6,"is_corresponding":false},{"id":1012317,"name":"Armida Faella","orcid":null,"position":7,"is_corresponding":false},{"id":831875,"name":"Luis Ferrández-Peral","orcid":"0000-0003-0338-0603","position":8,"is_corresponding":false},{"id":1011784,"name":"Laia Llovera","orcid":"0000-0002-5836-593X","position":9,"is_corresponding":false},{"id":831880,"name":"Òscar Fornas","orcid":"0000-0003-2017-9100","position":10,"is_corresponding":false},{"id":831879,"name":"Eva Julià","orcid":"0000-0002-9722-4662","position":11,"is_corresponding":false},{"id":1012318,"name":"Erika Ramírez","orcid":null,"position":12,"is_corresponding":false},{"id":1012319,"name":"Irene González","orcid":null,"position":13,"is_corresponding":false},{"id":617759,"name":"Jochen Hecht","orcid":"0000-0002-6996-5279","position":14,"is_corresponding":false},{"id":32856,"name":"Esther Lizano","orcid":"0000-0003-3304-9807","position":15,"is_corresponding":false},{"id":51466,"name":"David Juan","orcid":"0000-0003-1912-9667","position":16,"is_corresponding":false},{"id":7702,"name":"Tomàs Marquès‐Bonet","orcid":"0000-0002-5597-3075","position":17,"is_corresponding":false},{"id":683432,"name":"Paula Esteller-Cucala","orcid":"0000-0003-3048-4280","position":0,"is_corresponding":true}],"reference_count":70,"raw_metadata":null,"created_at":"2026-07-19T00:33:44.454239Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}