{"id":"https://openalex.org/W4406151753","doi":"https://doi.org/10.1093/nargab/lqae190","title":"Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping","display_name":"Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping","publication_year":2025,"publication_date":"2025-01-07","ids":{"openalex":"https://openalex.org/W4406151753","doi":"https://doi.org/10.1093/nargab/lqae190","pmid":"https://pubmed.ncbi.nlm.nih.gov/38915648","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11195078"},"language":"en","primary_location":{"id":"doi:10.1093/nargab/lqae190","doi":"https://doi.org/10.1093/nargab/lqae190","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nargab/lqae190","pdf_url":"https://academic.oup.com/nargab/article-pdf/7/1/lqae190/61368594/lqae190.pdf","source":{"id":"https://openalex.org/S4210241000","display_name":"NAR Genomics and Bioinformatics","issn_l":"2631-9268","issn":["2631-9268"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR Genomics and Bioinformatics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/nargab/article-pdf/7/1/lqae190/61368594/lqae190.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061691031","display_name":"Sapir Margalit","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Sapir Margalit","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039340382","display_name":"Zuzana Tulpov\u00e1","orcid":"https://orcid.org/0000-0002-4403-9367","observed_orcids":["https://orcid.org/0000-0002-4403-9367"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I4210156025","display_name":"Czech Academy of Sciences, Institute of Experimental Botany","ror":"https://ror.org/057br4398","country_code":"CZ","type":"facility","lineage":["https://openalex.org/I202391551","https://openalex.org/I4210156025"]}],"countries":["CZ","IL"],"is_corresponding":false,"raw_author_name":"Zuzana Tulpov\u00e1","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","Institute of Experimental Botany of the Czech Academy of Sciences , Olomouc ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":"https://orcid.org/0000-0002-4403-9367","affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"Institute of Experimental Botany of the Czech Academy of Sciences , Olomouc ,","institution_ids":["https://openalex.org/I4210156025"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074435652","display_name":"Tahir Detinis Zur","orcid":"https://orcid.org/0000-0002-2772-9286","observed_orcids":["https://orcid.org/0000-0002-2772-9286"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Tahir Detinis\u00a0Zur","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109393408","display_name":"Yael Michaeli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yael Michaeli","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018938911","display_name":"Jasline Deek","orcid":"https://orcid.org/0000-0002-5584-306X","observed_orcids":["https://orcid.org/0000-0002-5584-306X"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Jasline Deek","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036614722","display_name":"Gil Nifker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Gil Nifker","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113157115","display_name":"Rita Haldar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Rita Haldar","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062927064","display_name":"Yehudit Gnatek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]},{"id":"https://openalex.org/I4210144215","display_name":"Edmond and Lily Safra Children's Hospital","ror":"https://ror.org/04jbyz122","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210144215"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yehudit Gnatek","raw_affiliation_strings":["Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52621\u00a0 Ramat Gan ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52621\u00a0 Ramat Gan ,","institution_ids":["https://openalex.org/I2799810450","https://openalex.org/I4210144215"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111157697","display_name":"Dorit Omer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]},{"id":"https://openalex.org/I4210144215","display_name":"Edmond and Lily Safra Children's Hospital","ror":"https://ror.org/04jbyz122","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210144215"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Dorit Omer","raw_affiliation_strings":["Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52621\u00a0 Ramat Gan ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52621\u00a0 Ramat Gan ,","institution_ids":["https://openalex.org/I2799810450","https://openalex.org/I4210144215"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050824632","display_name":"Benjamin Dekel","orcid":"https://orcid.org/0000-0002-3784-8238","observed_orcids":["https://orcid.org/0000-0002-3784-8238"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]},{"id":"https://openalex.org/I4210144215","display_name":"Edmond and Lily Safra Children's Hospital","ror":"https://ror.org/04jbyz122","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210144215"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Benjamin Dekel","raw_affiliation_strings":["Pediatric Nephrology Unit, The Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52621\u00a0 Ramat Gan ,","Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52621\u00a0 Ramat Gan ,","School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Nephrology Unit, The Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52621\u00a0 Ramat Gan ,","institution_ids":["https://openalex.org/I2799810450","https://openalex.org/I4210144215"]},{"raw_affiliation_string":"Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center , 52621\u00a0 Ramat Gan ,","institution_ids":["https://openalex.org/I2799810450","https://openalex.org/I4210144215"]},{"raw_affiliation_string":"School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033324929","display_name":"Hagit Baris Feldman","orcid":"https://orcid.org/0000-0003-4065-7560","observed_orcids":["https://orcid.org/0000-0003-4065-7560"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799807261","display_name":"Tel Aviv Sourasky Medical Center","ror":"https://ror.org/04nd58p63","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799807261"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Hagit Baris\u00a0Feldman","raw_affiliation_strings":["School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center , Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center , Tel Aviv ,","institution_ids":["https://openalex.org/I2799807261"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074702466","display_name":"Assaf Grunwald","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"Assaf Grunwald","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089836860","display_name":"Yuval Ebenstein","orcid":"https://orcid.org/0000-0002-7107-7529","observed_orcids":["https://orcid.org/0000-0002-7107-7529"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"Yuval Ebenstein","raw_affiliation_strings":["Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,"],"raw_orcid":"https://orcid.org/0000-0002-7107-7529","affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University , 6997801\u00a0 Tel Aviv ,","institution_ids":["https://openalex.org/I16391192"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5074702466","https://openalex.org/A5089836860"],"corresponding_institution_ids":["https://openalex.org/I16391192"],"apc_list":{"value":2766,"currency":"USD","value_usd":2766},"apc_paid":{"value":2766,"currency":"USD","value_usd":2766},"fwci":4.6676,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.95115337,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":99},"biblio":{"volume":"7","issue":"1","first_page":"lqae190","last_page":"lqae190"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8090999722480774,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8090999722480774,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.11190000176429749,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.04580000042915344,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/clear-cell-renal-cell-carcinoma","display_name":"clear cell renal cell carcinoma","score":0.9139999747276306},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.9120000004768372},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.8519999980926514},{"id":"https://openalex.org/keywords/optical-genome-mapping","display_name":"optical genome mapping","score":0.8450000286102295},{"id":"https://openalex.org/keywords/nanopore-sequencing","display_name":"nanopore sequencing","score":0.9779999852180481},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.781000018119812},{"id":"https://openalex.org/keywords/hydroxymethylation","display_name":"hydroxymethylation","score":0.8960000276565552},{"id":"https://openalex.org/keywords/translocation","display_name":"translocation","score":0.7149999737739563},{"id":"https://openalex.org/keywords/karyology","display_name":"karyology","score":0.6729999780654907}],"concepts":[{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.7180566191673279},{"id":"https://openalex.org/C126513998","wikidata":"https://www.wikidata.org/wiki/Q8973627","display_name":"Nanopore sequencing","level":4,"score":0.5825183987617493},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5773664712905884},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5756166577339172},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.5313435792922974},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5070223808288574},{"id":"https://openalex.org/C141795571","wikidata":"https://www.wikidata.org/wiki/Q580942","display_name":"Nanopore","level":2,"score":0.5044804811477661},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.42525625228881836},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4183947443962097},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2358958125114441},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0786844789981842},{"id":"https://openalex.org/C171250308","wikidata":"https://www.wikidata.org/wiki/Q11468","display_name":"Nanotechnology","level":1,"score":0.0},{"id":"https://openalex.org/C192562407","wikidata":"https://www.wikidata.org/wiki/Q228736","display_name":"Materials science","level":0,"score":0.0}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.1093/nargab/lqae190","doi":"https://doi.org/10.1093/nargab/lqae190","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nargab/lqae190","pdf_url":"https://academic.oup.com/nargab/article-pdf/7/1/lqae190/61368594/lqae190.pdf","source":{"id":"https://openalex.org/S4210241000","display_name":"NAR Genomics and Bioinformatics","issn_l":"2631-9268","issn":["2631-9268"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR Genomics and Bioinformatics","raw_type":"journal-article"},{"id":"doi:10.1101/2024.03.31.587463","doi":"https://doi.org/10.1101/2024.03.31.587463","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2024.03.31.587463","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2024/04/01/2024.03.31.587463.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:11704781","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11704781","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11704781/pdf/lqae190.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR Genom Bioinform","raw_type":"Text"},{"id":"pmid:38915648","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38915648","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"bioRxiv : the preprint server for biology","raw_type":"Journal Article"},{"id":"pmid:39781516","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39781516","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR genomics and bioinformatics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11195078","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11195078","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11195078/pdf/nihpp-2024.03.31.587463v3.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/nargab/lqae190","doi":"https://doi.org/10.1093/nargab/lqae190","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nargab/lqae190","pdf_url":"https://academic.oup.com/nargab/article-pdf/7/1/lqae190/61368594/lqae190.pdf","source":{"id":"https://openalex.org/S4210241000","display_name":"NAR Genomics and Bioinformatics","issn_l":"2631-9268","issn":["2631-9268"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR Genomics and Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2010414684","display_name":"Exploring the Epigenome by Multiplexed Physical Mapping of Individual Chromosomes","funder_award_id":"817811","funder_id":"https://openalex.org/F4320338335","funder_display_name":"H2020 European Research Council"},{"id":"https://openalex.org/G6740126092","display_name":"Nanopore based profiling of epigenetic state","funder_award_id":"R01HG009190","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G966026062","display_name":null,"funder_award_id":"771/21","funder_id":"https://openalex.org/F4320322252","funder_display_name":"Israel Science Foundation"}],"funders":[{"id":"https://openalex.org/F4320322252","display_name":"Israel Science Foundation","ror":"https://ror.org/04sazxf24"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320338335","display_name":"H2020 European Research Council","ror":"https://ror.org/0472cxd90"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4406151753.pdf","grobid_xml":"https://content.openalex.org/works/W4406151753.grobid-xml"},"referenced_works_count":72,"referenced_works":["https://openalex.org/W1960934342","https://openalex.org/W1966810152","https://openalex.org/W1971044822","https://openalex.org/W1989457196","https://openalex.org/W2029641872","https://openalex.org/W2045949302","https://openalex.org/W2052664549","https://openalex.org/W2060749303","https://openalex.org/W2097065948","https://openalex.org/W2102619694","https://openalex.org/W2108234281","https://openalex.org/W2115578548","https://openalex.org/W2116041602","https://openalex.org/W2119451273","https://openalex.org/W2122018421","https://openalex.org/W2129673552","https://openalex.org/W2134526812","https://openalex.org/W2149254097","https://openalex.org/W2154866190","https://openalex.org/W2158789637","https://openalex.org/W2199847904","https://openalex.org/W2288276338","https://openalex.org/W2322170906","https://openalex.org/W2335012284","https://openalex.org/W2515982329","https://openalex.org/W2737414718","https://openalex.org/W2754569966","https://openalex.org/W2789843538","https://openalex.org/W2796709271","https://openalex.org/W2809050542","https://openalex.org/W2897856321","https://openalex.org/W2898598946","https://openalex.org/W2899790566","https://openalex.org/W2912214071","https://openalex.org/W2917576966","https://openalex.org/W2921834324","https://openalex.org/W2944720959","https://openalex.org/W2950469833","https://openalex.org/W2951764279","https://openalex.org/W2951848406","https://openalex.org/W2953622121","https://openalex.org/W3006653136","https://openalex.org/W3007172120","https://openalex.org/W3011696475","https://openalex.org/W3034359411","https://openalex.org/W3046401484","https://openalex.org/W3051817598","https://openalex.org/W3095456389","https://openalex.org/W3120392574","https://openalex.org/W3138196164","https://openalex.org/W3160601152","https://openalex.org/W3164057401","https://openalex.org/W3177604281","https://openalex.org/W3181542529","https://openalex.org/W3211724605","https://openalex.org/W3213101281","https://openalex.org/W4281780692","https://openalex.org/W4281983143","https://openalex.org/W4282023698","https://openalex.org/W4307707392","https://openalex.org/W4360874509","https://openalex.org/W4366224338","https://openalex.org/W4375955391","https://openalex.org/W4385396349","https://openalex.org/W4389547706","https://openalex.org/W4390500910","https://openalex.org/W4390547586","https://openalex.org/W4392959248","https://openalex.org/W4400768060","https://openalex.org/W4401686937","https://openalex.org/W4408230822","https://openalex.org/W6789700096"],"related_works":["https://openalex.org/W4310019801","https://openalex.org/W4393074972","https://openalex.org/W4390939505","https://openalex.org/W3209800503","https://openalex.org/W3166136444","https://openalex.org/W7123642057","https://openalex.org/W4392606816","https://openalex.org/W3161096424","https://openalex.org/W4365511992","https://openalex.org/W4416705583"],"abstract_inverted_index":{"Carcinogenesis":[0],"often":[1],"involves":[2],"significant":[3],"alterations":[4],"in":[5,41,97,126,140,147,177],"the":[6,91,94,99,168,189,194],"cancer":[7],"genome,":[8],"marked":[9],"by":[10],"large":[11],"structural":[12],"variants":[13],"(SVs)":[14],"and":[15,43,57,68,103,122,135,171],"copy":[16,101],"number":[17,102],"variations":[18],"(CNVs)":[19],"that":[20],"are":[21,31,39],"difficult":[22],"to":[23,33,129],"capture":[24,79],"with":[25],"short-read":[26],"sequencing.":[27],"Traditionally,":[28],"cytogenetic":[29,73],"techniques":[30],"applied":[32],"detect":[34,130],"such":[35],"aberrations,":[36],"but":[37,124],"they":[38,83],"limited":[40],"resolution":[42,66],"do":[44],"not":[45],"cover":[46],"features":[47],"smaller":[48],"than":[49],"several":[50],"hundred":[51],"kilobases.":[52],"Optical":[53],"genome":[54],"mapping":[55],"(OGM)":[56],"nanopore":[58],"sequencing":[59],"[Oxford":[60],"Nanopore":[61],"Technologies":[62],"(ONT)]":[63],"bridge":[64],"this":[65],"gap":[67],"offer":[69],"enhanced":[70],"performance":[71],"for":[72,119],"applications.":[74],"Additionally,":[75,162],"both":[76,163],"methods":[77,96,115,164],"can":[78,182],"epigenetic":[80,104],"information":[81],"as":[82],"profile":[84],"native,":[85],"individual":[86],"DNA":[87],"molecules.":[88],"We":[89],"compared":[90],"effectiveness":[92],"of":[93,106,132,191],"two":[95],"characterizing":[98],"structural,":[100],"landscape":[105],"a":[107],"clear":[108],"cell":[109,111],"renal":[110],"carcinoma":[112],"tumor.":[113],"Both":[114],"provided":[116,165],"comparable":[117],"results":[118],"basic":[120],"karyotyping":[121],"CNVs,":[123],"differed":[125],"their":[127],"ability":[128],"SVs":[131],"different":[133],"sizes":[134],"types.":[136],"ONT":[137,159,174],"outperformed":[138],"OGM":[139,145],"detecting":[141,148],"small":[142],"SVs,":[143,150],"while":[144],"excelled":[146],"larger":[149],"including":[151],"translocations.":[152],"Differences":[153],"were":[154],"also":[155],"observed":[156],"among":[157],"various":[158],"SV":[160],"callers.":[161],"insights":[166],"into":[167],"tumor's":[169],"methylome":[170],"hydroxymethylome.":[172],"While":[173],"was":[175],"superior":[176],"methylation":[178],"calling,":[179],"hydroxymethylation":[180],"reports":[181],"be":[183],"further":[184],"optimized.":[185],"Our":[186],"findings":[187],"underscore":[188],"importance":[190],"carefully":[192],"selecting":[193],"most":[195],"appropriate":[196],"platform":[197],"based":[198],"on":[199],"specific":[200],"research":[201],"questions.":[202]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":6}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2025-01-08T00:00:00"}
