{"id":"https://openalex.org/W4415097022","doi":"https://doi.org/10.3389/fmolb.2025.1669085","title":"Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system","display_name":"Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system","publication_year":2025,"publication_date":"2025-10-13","ids":{"openalex":"https://openalex.org/W4415097022","doi":"https://doi.org/10.3389/fmolb.2025.1669085","pmid":"https://pubmed.ncbi.nlm.nih.gov/41158875","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12554564"},"language":"en","primary_location":{"id":"doi:10.3389/fmolb.2025.1669085","doi":"https://doi.org/10.3389/fmolb.2025.1669085","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fmolb.2025.1669085","pdf_url":"https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2025.1669085/pdf","source":{"id":"https://openalex.org/S2595797843","display_name":"Frontiers in Molecular Biosciences","issn_l":"2296-889X","issn":["2296-889X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-140","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Molecular Biosciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2025.1669085/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021420987","display_name":"Josiah T. Wagner","orcid":"https://orcid.org/0000-0003-0646-2321","observed_orcids":["https://orcid.org/0000-0003-0646-2321"]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Josiah T. Wagner","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":"https://orcid.org/0000-0003-0646-2321","affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072487507","display_name":"John T. Welle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John T. Welle","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014023551","display_name":"Isabelle Lucas Beckett","orcid":"https://orcid.org/0009-0007-3004-3318","observed_orcids":["https://orcid.org/0009-0007-3004-3318"]},"institutions":[{"id":"https://openalex.org/I3148997608","display_name":"Institute for Systems Biology","ror":"https://ror.org/02tpgw303","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I3148997608"]},{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Isabelle A. Lucas Beckett","raw_affiliation_strings":["Institute For Systems Biology","Providence Health and Services","Institute For Systems Biology, Seattle, WA, United States","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":"https://orcid.org/0009-0007-3004-3318","affiliations":[{"raw_affiliation_string":"Institute For Systems Biology","institution_ids":["https://openalex.org/I3148997608"]},{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Institute For Systems Biology, Seattle, WA, United States","institution_ids":["https://openalex.org/I3148997608"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Kate R. Emery","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kate R. Emery","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Benjamin A. Cosgrove","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Benjamin A. Cosgrove","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Krzysztof Olszewski","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799845439","display_name":"Oakland Museum of California","ror":"https://ror.org/03bch0x53","country_code":"US","type":"archive","lineage":["https://openalex.org/I2799845439"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Krzysztof Olszewski","raw_affiliation_strings":["Fabric Genomics","Fabric Genomics, Oakland, CA, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fabric Genomics","institution_ids":[]},{"raw_affiliation_string":"Fabric Genomics, Oakland, CA, United States","institution_ids":["https://openalex.org/I2799845439"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Nick Wagner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nick Wagner","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086354041","display_name":"Tucker C. Bower","orcid":"https://orcid.org/0009-0002-0183-5483","observed_orcids":["https://orcid.org/0009-0002-0183-5483"]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tucker C. Bower","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Li Chi Yuan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Li Chi Yuan","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114296244","display_name":"Eric M. Shull","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric M. Shull","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020658472","display_name":"Kathleen Jade","orcid":"https://orcid.org/0000-0002-9482-2536","observed_orcids":["https://orcid.org/0000-0002-9482-2536"]},"institutions":[{"id":"https://openalex.org/I3148997608","display_name":"Institute for Systems Biology","ror":"https://ror.org/02tpgw303","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I3148997608"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen Jade","raw_affiliation_strings":["Institute For Systems Biology","Institute For Systems Biology, Seattle, WA, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute For Systems Biology","institution_ids":["https://openalex.org/I3148997608"]},{"raw_affiliation_string":"Institute For Systems Biology, Seattle, WA, United States","institution_ids":["https://openalex.org/I3148997608"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110335346","display_name":"Jon Clemens","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jon Clemens","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035252203","display_name":"Andrew T. Magis","orcid":"https://orcid.org/0000-0003-0576-677X","observed_orcids":["https://orcid.org/0000-0003-0576-677X"]},"institutions":[{"id":"https://openalex.org/I3148997608","display_name":"Institute for Systems Biology","ror":"https://ror.org/02tpgw303","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I3148997608"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew T. Magis","raw_affiliation_strings":["Institute For Systems Biology","Institute For Systems Biology, Seattle, WA, United States"],"raw_orcid":"https://orcid.org/0000-0003-0576-677X","affiliations":[{"raw_affiliation_string":"Institute For Systems Biology","institution_ids":["https://openalex.org/I3148997608"]},{"raw_affiliation_string":"Institute For Systems Biology, Seattle, WA, United States","institution_ids":["https://openalex.org/I3148997608"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063131268","display_name":"Mary B. Campbell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mary B. Campbell","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111904737","display_name":"Ora Karp Gordon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ora K. Gordon","raw_affiliation_strings":["Providence Health and Services","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062444950","display_name":"Carlo Bruno Bifulco","orcid":"https://orcid.org/0000-0003-1922-6977","observed_orcids":["https://orcid.org/0000-0003-1922-6977","https://orcid.org/0000-0002-6369-1721"]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carlo B. Bifulco","raw_affiliation_strings":["Earle A. Chiles Research Institute","Providence Health and Services","Earle A. Chiles Research Institute, Portland, OR, United States","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Earle A. Chiles Research Institute","institution_ids":[]},{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Earle A. Chiles Research Institute, Portland, OR, United States","institution_ids":[]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5082626235","display_name":"Brian Piening","orcid":"https://orcid.org/0000-0002-2683-8157","observed_orcids":["https://orcid.org/0000-0002-2683-8157"]},"institutions":[{"id":"https://openalex.org/I94396219","display_name":"Providence Health & Services","ror":"https://ror.org/00n4k4n97","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I94396219"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Brian D. Piening","raw_affiliation_strings":["Earle A. Chiles Research Institute","Providence Health and Services","Earle A. Chiles Research Institute, Portland, OR, United States","Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States"],"raw_orcid":"https://orcid.org/0000-0002-2683-8157","affiliations":[{"raw_affiliation_string":"Earle A. Chiles Research Institute","institution_ids":[]},{"raw_affiliation_string":"Providence Health and Services","institution_ids":["https://openalex.org/I94396219"]},{"raw_affiliation_string":"Earle A. Chiles Research Institute, Portland, OR, United States","institution_ids":[]},{"raw_affiliation_string":"Providence Institute for Clinical Innovation, Providence Health, Portland, OR, United States","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5082626235"],"corresponding_institution_ids":["https://openalex.org/I94396219"],"apc_list":{"value":3150,"currency":"CHF","value_usd":3801},"apc_paid":{"value":3150,"currency":"CHF","value_usd":3801},"fwci":0.3904,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.46625138,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"12","issue":null,"first_page":"1669085","last_page":"1669085"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9980000257492065,"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":0.9980000257492065,"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":0.00039999998989515007,"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":0.00019999999494757503,"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/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.8619999885559082},{"id":"https://openalex.org/keywords/pharmacogenomics","display_name":"pharmacogenomics","score":0.9860000014305115},{"id":"https://openalex.org/keywords/assay-validation","display_name":"assay validation","score":0.7549999952316284}],"concepts":[{"id":"https://openalex.org/C2988170871","wikidata":"https://www.wikidata.org/wiki/Q11000047","display_name":"Healthcare system","level":3,"score":0.5331000089645386},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.49900001287460327},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.48730000853538513},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4580000042915344},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.45660001039505005},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.43549999594688416},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.39149999618530273},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.37400001287460327},{"id":"https://openalex.org/C2989236134","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Patient care","level":2,"score":0.33070001006126404},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.32330000400543213},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2980000078678131},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.28630000352859497},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.2797999978065491},{"id":"https://openalex.org/C2779974597","wikidata":"https://www.wikidata.org/wiki/Q28448986","display_name":"Clinical Practice","level":2,"score":0.2709999978542328},{"id":"https://openalex.org/C63527458","wikidata":"https://www.wikidata.org/wiki/Q5133829","display_name":"Clinical decision support system","level":3,"score":0.27090001106262207},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.2646999955177307},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.26080000400543213},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2572999894618988}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.3389/fmolb.2025.1669085","doi":"https://doi.org/10.3389/fmolb.2025.1669085","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fmolb.2025.1669085","pdf_url":"https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2025.1669085/pdf","source":{"id":"https://openalex.org/S2595797843","display_name":"Frontiers in Molecular Biosciences","issn_l":"2296-889X","issn":["2296-889X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-140","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Molecular Biosciences","raw_type":"journal-article"},{"id":"doi:10.1101/2025.07.16.25331598","doi":"https://doi.org/10.1101/2025.07.16.25331598","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2025.07.16.25331598","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2025/07/17/2025.07.16.25331598.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmh:oai:europepmc.org:11361959","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12554564","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:41158875","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41158875","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":"Frontiers in molecular biosciences","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12554564","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12554564/","pdf_url":null,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Mol Biosci","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:20f679bd57e0478da90a66493e5bd7d8","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/20f679bd57e0478da90a66493e5bd7d8","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":"Frontiers in Molecular Biosciences, Vol 12 (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3389/fmolb.2025.1669085","doi":"https://doi.org/10.3389/fmolb.2025.1669085","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fmolb.2025.1669085","pdf_url":"https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2025.1669085/pdf","source":{"id":"https://openalex.org/S2595797843","display_name":"Frontiers in Molecular Biosciences","issn_l":"2296-889X","issn":["2296-889X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-140","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Molecular Biosciences","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4415097022.pdf","grobid_xml":"https://content.openalex.org/works/W4415097022.grobid-xml"},"referenced_works_count":88,"referenced_works":["https://openalex.org/W1804576807","https://openalex.org/W1896195310","https://openalex.org/W1969496555","https://openalex.org/W1993167199","https://openalex.org/W2008322232","https://openalex.org/W2021341670","https://openalex.org/W2021714239","https://openalex.org/W2030352776","https://openalex.org/W2036533319","https://openalex.org/W2043462668","https://openalex.org/W2051978340","https://openalex.org/W2067075916","https://openalex.org/W2092138236","https://openalex.org/W2095597256","https://openalex.org/W2139476567","https://openalex.org/W2154866190","https://openalex.org/W2159997698","https://openalex.org/W2161620765","https://openalex.org/W2162927194","https://openalex.org/W2168495171","https://openalex.org/W2173732482","https://openalex.org/W2178874084","https://openalex.org/W2341539131","https://openalex.org/W2443172870","https://openalex.org/W2545241042","https://openalex.org/W2554756829","https://openalex.org/W2567297878","https://openalex.org/W2568626574","https://openalex.org/W2588108371","https://openalex.org/W2653806839","https://openalex.org/W2787060096","https://openalex.org/W2793042937","https://openalex.org/W2799351018","https://openalex.org/W2868826599","https://openalex.org/W2884450918","https://openalex.org/W2888193242","https://openalex.org/W2894849267","https://openalex.org/W2897424463","https://openalex.org/W2936189318","https://openalex.org/W2944063617","https://openalex.org/W2949838248","https://openalex.org/W2950919247","https://openalex.org/W2952360394","https://openalex.org/W2962998774","https://openalex.org/W2963903719","https://openalex.org/W2989686106","https://openalex.org/W2994213019","https://openalex.org/W2995381955","https://openalex.org/W2996638575","https://openalex.org/W3007907037","https://openalex.org/W3032034316","https://openalex.org/W3037727765","https://openalex.org/W3044809358","https://openalex.org/W3045087779","https://openalex.org/W3047884069","https://openalex.org/W3101603399","https://openalex.org/W3107724625","https://openalex.org/W3118983547","https://openalex.org/W3120347956","https://openalex.org/W3123208427","https://openalex.org/W3167268391","https://openalex.org/W3172385553","https://openalex.org/W3175801695","https://openalex.org/W3186963966","https://openalex.org/W3195285310","https://openalex.org/W3206688874","https://openalex.org/W3207534753","https://openalex.org/W3212584598","https://openalex.org/W4200559684","https://openalex.org/W4206412709","https://openalex.org/W4212834704","https://openalex.org/W4221112641","https://openalex.org/W4224991075","https://openalex.org/W4225792942","https://openalex.org/W4281384122","https://openalex.org/W4308255410","https://openalex.org/W4310457751","https://openalex.org/W4318948364","https://openalex.org/W4366201812","https://openalex.org/W4385514594","https://openalex.org/W4386346491","https://openalex.org/W4389367121","https://openalex.org/W4391898687","https://openalex.org/W4391925485","https://openalex.org/W4392351815","https://openalex.org/W4399721741","https://openalex.org/W4407956135","https://openalex.org/W4411857822"],"related_works":["https://openalex.org/W4282008390","https://openalex.org/W4226189406","https://openalex.org/W2954311334","https://openalex.org/W4415885250","https://openalex.org/W3217181608","https://openalex.org/W4402653927","https://openalex.org/W2263865604","https://openalex.org/W7142843599","https://openalex.org/W6939681069","https://openalex.org/W3024974705"],"abstract_inverted_index":{"Introduction:":[0],"Population":[1],"genetic":[2],"screening":[3],"is":[4,59],"rapidly":[5],"emerging":[6],"as":[7,182,195],"a":[8,66,75,84,90,111,185,196],"key":[9,55],"methodology":[10],"in":[11,20],"the":[12,34,43,61,72,124],"clinical":[13,25,52,92,121,187,201],"laboratory":[14],"for":[15,50,74,81,98,123,199],"detecting":[16],"actionable":[17,132],"genomic":[18,77,133],"conditions":[19,134],"asymptomatic":[21],"patients.":[22],"While":[23],"current":[24],"methods":[26],"are":[27],"largely":[28],"focused":[29],"on":[30],"targeted":[31],"gene":[32,101],"panels,":[33],"increasing":[35],"efficiency":[36],"of":[37,45,57,113,143,184],"next-generation":[38],"sequencing":[39,48,68],"(NGS)":[40],"platforms":[41],"permits":[42],"use":[44],"whole":[46],"genome":[47,63],"(WGS)":[49],"routine":[51],"applications.":[53],"The":[54,120,139,161,171],"advantage":[56],"WGS":[58,125,162,194],"that":[60,149],"complete":[62],"produced":[64],"by":[65],"single":[67],"event":[69],"can":[70],"form":[71],"basis":[73],"patient's":[76,85],"health":[78],"care":[79],"record":[80],"reanalysis":[82],"throughout":[83],"lifetime.":[86],"Methods:":[87],"We":[88,106],"developed":[89,95],"scalable":[91],"WGS-based":[93],"lab":[94],"procedure":[96],"(LDP)":[97],"heritable":[99],"disease":[100],"testing":[102],"and":[103,116,135,157,168],"pharmacogenomics":[104],"(PGx).":[105],"performed":[107],"extensive":[108],"validation":[109,140],"across":[110],"range":[112],"blood,":[114],"saliva,":[115],"reference":[117,155,159],"specimens.":[118],"Results:":[119],"deliverable":[122],"LDP":[126,163,173],"was":[127,174],"78":[128],"genes":[129],"associated":[130],"with":[131],"4":[136],"PGx":[137],"genes.":[138],"cohort":[141],"consisted":[142],"samples":[144],"from":[145],"188":[146],"study":[147,189],"participants":[148],"were":[150],"orthogonally":[151],"sequenced":[152],"at":[153],"commercial":[154],"laboratories":[156],"additional":[158],"materials.":[160],"demonstrated":[164],"excellent":[165],"sensitivity,":[166],"specificity,":[167],"accuracy.":[169],"Conclusion:":[170],"deployed":[172],"then":[175],"used":[176],"to":[177],"sequence":[178],"over":[179],"2,000":[180],"patients":[181],"part":[183],"broader":[186],"implementation":[188],"(\"Geno4ME\").":[190],"Our":[191],"findings":[192],"support":[193],"viable":[197],"method":[198],"broad":[200],"screening.":[202]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2025-10-13T00:00:00"}
