{"id":"https://openalex.org/W4392588893","doi":"https://doi.org/10.1016/j.gimo.2024.101189","title":"P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants","display_name":"P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants","publication_year":2024,"publication_date":"2024-01-01","ids":{"openalex":"https://openalex.org/W4392588893","doi":"https://doi.org/10.1016/j.gimo.2024.101189"},"language":"en","primary_location":{"id":"doi:10.1016/j.gimo.2024.101189","doi":"https://doi.org/10.1016/j.gimo.2024.101189","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2024.101189","pdf_url":null,"source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1016/j.gimo.2024.101189","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044300649","display_name":"Joseph M. Devaney","orcid":"https://orcid.org/0000-0003-3648-2737","observed_orcids":["https://orcid.org/0000-0003-3648-2737"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Joseph Devaney","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5094098251","display_name":"Jessica Noya","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jessica Noya","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052315978","display_name":"April S. Berlyoung","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"April Berlyoung","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Aaron Johnson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aaron Johnson","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102626793","display_name":"Julianna Spangler","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julianna Spangler","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045543957","display_name":"Rhonda C. Brandon","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rhonda Brandon","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074265116","display_name":"Kathleen S. Hruska","orcid":"https://orcid.org/0000-0001-8468-2843","observed_orcids":["https://orcid.org/0000-0001-8468-2843"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kathleen Hruska","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071288817","display_name":"Lucas Lochovsky","orcid":"https://orcid.org/0000-0003-2655-8494","observed_orcids":["https://orcid.org/0000-0003-2655-8494"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lucas Lochovsky","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015165231","display_name":"Egor Dolzhenko","orcid":"https://orcid.org/0000-0002-3296-0677","observed_orcids":["https://orcid.org/0000-0002-3296-0677"]},"institutions":[{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Egor Dolzhenko","raw_affiliation_strings":["Pacific Biosciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pacific Biosciences","institution_ids":["https://openalex.org/I68554272"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064173269","display_name":"Xiao Chen","orcid":"https://orcid.org/0000-0002-4438-5286","observed_orcids":["https://orcid.org/0000-0002-4438-5286","https://orcid.org/0009-0001-7409-0059"]},"institutions":[{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiao Chen","raw_affiliation_strings":["Pacific Biosciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pacific Biosciences","institution_ids":["https://openalex.org/I68554272"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015843320","display_name":"Michael A. Eberle","orcid":"https://orcid.org/0000-0001-8965-1253","observed_orcids":["https://orcid.org/0000-0001-8965-1253"]},"institutions":[{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Eberle","raw_affiliation_strings":["Pacific Biosciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pacific Biosciences","institution_ids":["https://openalex.org/I68554272"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Alexander Robertson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexander Robertson","raw_affiliation_strings":["Pacific Biosciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pacific Biosciences","institution_ids":["https://openalex.org/I68554272"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087687382","display_name":"Paul S. Kruszka","orcid":"https://orcid.org/0000-0003-4949-0875","observed_orcids":["https://orcid.org/0000-0003-4949-0875"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Paul Kruszka","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000065699","display_name":"Gustavo A. Stolovitzky","orcid":"https://orcid.org/0000-0002-9618-2819","observed_orcids":["https://orcid.org/0000-0002-9618-2819"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gustavo Stolovitzky","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038916228","display_name":"Scott Newman","orcid":"https://orcid.org/0000-0001-9309-4752","observed_orcids":["https://orcid.org/0000-0001-9309-4752"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Scott Newman","raw_affiliation_strings":["GeneDx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3200,"currency":"USD","value_usd":3200},"apc_paid":{"value":3200,"currency":"USD","value_usd":3200},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0303367,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2","issue":null,"first_page":"101189","last_page":"101189"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"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/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":9.999999747378752e-05,"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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/long-read-sequencing","display_name":"long-read sequencing","score":0.9340000152587891},{"id":"https://openalex.org/keywords/rare-genetic-disorders","display_name":"rare genetic disorders","score":0.8109999895095825},{"id":"https://openalex.org/keywords/clinical-variants","display_name":"clinical variants","score":0.5600000023841858},{"id":"https://openalex.org/keywords/variant-calling","display_name":"variant calling","score":0.7749999761581421},{"id":"https://openalex.org/keywords/pediatric-hospitalization","display_name":"pediatric hospitalization","score":0.4740000069141388},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.625}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5309585928916931},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43533527851104736},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3528585433959961},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.33833497762680054}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.gimo.2024.101189","doi":"https://doi.org/10.1016/j.gimo.2024.101189","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2024.101189","pdf_url":null,"source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:2e662ee18bbc439dac070a75a0ead7f9","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/2e662ee18bbc439dac070a75a0ead7f9","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genetics in Medicine Open, Vol 2, Iss , Pp 101189- (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.gimo.2024.101189","doi":"https://doi.org/10.1016/j.gimo.2024.101189","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2024.101189","pdf_url":null,"source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4408502014","https://openalex.org/W4392588982","https://openalex.org/W4392589455","https://openalex.org/W4408532235","https://openalex.org/W4392588507","https://openalex.org/W2995381955","https://openalex.org/W4221069261","https://openalex.org/W7164644634","https://openalex.org/W7165788962","https://openalex.org/W4405325463"],"abstract_inverted_index":{"Thirty":[0],"million":[1,8],"individuals":[2],"in":[3,23],"the":[4,24,27,57,65],"US":[5,25],"and":[6,72],"300":[7],"worldwide":[9],"are":[10,26],"affected":[11],"by":[12,32],"rare":[13,36],"genetic":[14,33],"disorders.":[15],"At":[16],"present,":[17],"approximately":[18],"23%":[19],"of":[20,29,60],"pediatric":[21],"hospitalizations":[22],"result":[28],"or":[30],"exacerbated":[31],"mechanisms.":[34],"Many":[35],"disease":[37],"patients":[38],"undergo":[39],"complex":[40],"diagnostic":[41],"odysseys":[42],"employing":[43],"multiple":[44],"testing":[45],"methodologies":[46],"often":[47],"spread":[48],"over":[49],"many":[50],"years.":[51],"Thus,":[52],"methods":[53],"that":[54],"can":[55],"detect":[56],"entire":[58],"spectrum":[59],"disease-causing":[61],"mutations":[62],"genome-wide":[63],"have":[64],"potential":[66],"to":[67],"provide":[68],"a":[69],"more":[70],"accurate":[71],"timely":[73],"diagnosis.":[74]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2024-03-09T00:00:00"}
