{"id":"https://openalex.org/W2020190245","doi":"https://doi.org/10.1373/clinchem.2014.222687","title":"Next Generation Sequencing in Clinical Diagnostics: Experiences of Early Adopters","display_name":"Next Generation Sequencing in Clinical Diagnostics: Experiences of Early Adopters","publication_year":2014,"publication_date":"2014-11-24","ids":{"openalex":"https://openalex.org/W2020190245","doi":"https://doi.org/10.1373/clinchem.2014.222687","mag":"2020190245","pmid":"https://pubmed.ncbi.nlm.nih.gov/25421800"},"language":"en","primary_location":{"id":"doi:10.1373/clinchem.2014.222687","doi":"https://doi.org/10.1373/clinchem.2014.222687","is_oa":false,"landing_page_url":"https://doi.org/10.1373/clinchem.2014.222687","pdf_url":null,"source":{"id":"https://openalex.org/S139212996","display_name":"Clinical Chemistry","issn_l":"0009-9147","issn":["0009-9147","1530-8561"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320272","host_organization_name":"American Association for Clinical Chemistry","host_organization_lineage":["https://openalex.org/P4310320272"],"host_organization_lineage_names":["American Association for Clinical Chemistry"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Chemistry","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5108794005","display_name":"Elaine Lyon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]},{"id":"https://openalex.org/I61474668","display_name":"ARUP Laboratories (United States)","ror":"https://ror.org/00c2tyx86","country_code":"US","type":"company","lineage":["https://openalex.org/I61474668"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Elaine Lyon","raw_affiliation_strings":["Associate Professor of Pathology, University of Utah School of Medicine, Salt Lake City, UT","Medical Director, Molecular Genetics, ARUP Laboratories, Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Associate Professor of Pathology, University of Utah School of Medicine, Salt Lake City, UT","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"Medical Director, Molecular Genetics, ARUP Laboratories, Salt Lake City, UT","institution_ids":["https://openalex.org/I61474668"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028896212","display_name":"Franklin R. Cockerill","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I74614422","display_name":"Quest Diagnostics (United States)","ror":"https://ror.org/010g9bb70","country_code":"US","type":"company","lineage":["https://openalex.org/I74614422"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Franklin R Cockerill","raw_affiliation_strings":["Current affiliation: Quest Diagnostics (10/1/14)","President and CEO, Mayo Medical Laboratories, Mayo Clinic, Rochester, MN","Professor and Chair, Department of Laboratory Medicine and Pathology and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Current affiliation: Quest Diagnostics (10/1/14)","institution_ids":["https://openalex.org/I74614422"]},{"raw_affiliation_string":"President and CEO, Mayo Medical Laboratories, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Professor and Chair, Department of Laboratory Medicine and Pathology and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060138620","display_name":"Sherri J. Bale","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sherri J Bale","raw_affiliation_strings":["Managing Director, GeneDx, Gaithersburg, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Managing Director, GeneDx, Gaithersburg, MD","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061310592","display_name":"Carol Beadling","orcid":"https://orcid.org/0000-0001-6444-7782","observed_orcids":["https://orcid.org/0000-0001-6444-7782"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carol Beadling","raw_affiliation_strings":["Assistant Director, Pathology Translational Research Laboratory, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistant Director, Pathology Translational Research Laboratory, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007342995","display_name":"Lynn Bry","orcid":"https://orcid.org/0000-0002-8792-8527","observed_orcids":["https://orcid.org/0000-0002-8792-8527"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lynn Bry","raw_affiliation_strings":["Director, Center for Clinical and Translational Metagenomics, Brigham & Women's Hospital and Associate Professor of Pathology, Harvard Medical School, Boston, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Director, Center for Clinical and Translational Metagenomics, Brigham & Women's Hospital and Associate Professor of Pathology, Harvard Medical School, Boston, MA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044574681","display_name":"Jill M. Hagenkord","orcid":"https://orcid.org/0000-0003-1188-3702","observed_orcids":["https://orcid.org/0000-0003-1188-3702"]},"institutions":[{"id":"https://openalex.org/I4210097491","display_name":"23andMe (United States)","ror":"https://ror.org/00q62jx03","country_code":"US","type":"company","lineage":["https://openalex.org/I4210097491"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jill Hagenkord","raw_affiliation_strings":["Chief Medical Officer, 23andMe, Inc. and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chief Medical Officer, 23andMe, Inc. and","institution_ids":["https://openalex.org/I4210097491"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111671807","display_name":"Shashikant Kulkarni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shashikant Kulkarni","raw_affiliation_strings":["Associate Professor, Pathology and Immunology, Pediatrics and Genetics, Director of Cytogenomics and Molecular Pathology, Washington University School of Medicine, St. Louis, MO"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Associate Professor, Pathology and Immunology, Pediatrics and Genetics, Director of Cytogenomics and Molecular Pathology, Washington University School of Medicine, St. Louis, MO","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055985698","display_name":"Richard D. Press","orcid":"https://orcid.org/0000-0002-2103-5144","observed_orcids":["https://orcid.org/0000-0002-2103-5144"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Press","raw_affiliation_strings":["Department of Pathology & Knight Cancer Institute, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology & Knight Cancer Institute, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5040488093","display_name":"Glenn E. Palomaki","orcid":"https://orcid.org/0000-0001-6154-8449","observed_orcids":["https://orcid.org/0000-0001-6154-8449"]},"institutions":[{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]},{"id":"https://openalex.org/I4210133025","display_name":"Women & Infants Hospital of Rhode Island","ror":"https://ror.org/03z8sn326","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210133025"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Glenn E Palomaki","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine. Women & Infants Hospital, Alpert Medical School at Brown University, Providence, RI"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine. Women & Infants Hospital, Alpert Medical School at Brown University, Providence, RI","institution_ids":["https://openalex.org/I27804330","https://openalex.org/I4210133025"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5108794005"],"corresponding_institution_ids":["https://openalex.org/I223532165","https://openalex.org/I61474668"],"apc_list":{"value":4636,"currency":"USD","value_usd":4636},"apc_paid":null,"fwci":0.655,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.69444537,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"61","issue":"1","first_page":"41","last_page":"49"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9945999979972839,"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":0.9945999979972839,"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":0.001500000013038516,"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":0.0012000000569969416,"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/next-generation-sequencing","display_name":"next-generation sequencing","score":0.9950000047683716},{"id":"https://openalex.org/keywords/clinical-laboratory-testing","display_name":"clinical laboratory testing","score":0.7480000257492065},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.7049999833106995},{"id":"https://openalex.org/keywords/genetic-disorders","display_name":"genetic disorders","score":0.9070000052452087},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.9330000281333923},{"id":"https://openalex.org/keywords/cancer-genomics","display_name":"cancer genomics","score":0.7789999842643738},{"id":"https://openalex.org/keywords/cell-free-dna","display_name":"cell-free DNA","score":0.9580000042915344},{"id":"https://openalex.org/keywords/viral-genome-sequencing","display_name":"viral genome sequencing","score":0.4970000088214874},{"id":"https://openalex.org/keywords/microbial-genome-sequencing","display_name":"microbial genome sequencing","score":0.6800000071525574},{"id":"https://openalex.org/keywords/non-invasive-prenatal-testing","display_name":"non-invasive prenatal testing","score":0.7260000109672546},{"id":"https://openalex.org/keywords/test-validation","display_name":"test validation","score":0.5879999995231628},{"id":"https://openalex.org/keywords/quality-control","display_name":"quality control","score":0.9789999723434448},{"id":"https://openalex.org/keywords/data-interpretation","display_name":"data interpretation","score":0.8220000267028809},{"id":"https://openalex.org/keywords/early-adopters","display_name":"early adopters","score":0.7940000295639038}],"concepts":[{"id":"https://openalex.org/C125502","wikidata":"https://www.wikidata.org/wiki/Q1153279","display_name":"Early adopter","level":2,"score":0.4306177496910095},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3944129943847656},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3734026551246643},{"id":"https://openalex.org/C19527891","wikidata":"https://www.wikidata.org/wiki/Q1120908","display_name":"Medical physics","level":1,"score":0.3444594144821167},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.305331289768219},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2629144787788391},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002624","descriptor_name":"Chemistry, Clinical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000639","qualifier_name":"trends","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D025202","descriptor_name":"Molecular Diagnostic Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1373/clinchem.2014.222687","doi":"https://doi.org/10.1373/clinchem.2014.222687","is_oa":false,"landing_page_url":"https://doi.org/10.1373/clinchem.2014.222687","pdf_url":null,"source":{"id":"https://openalex.org/S139212996","display_name":"Clinical Chemistry","issn_l":"0009-9147","issn":["0009-9147","1530-8561"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320272","host_organization_name":"American Association for Clinical Chemistry","host_organization_lineage":["https://openalex.org/P4310320272"],"host_organization_lineage_names":["American Association for Clinical Chemistry"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Chemistry","raw_type":"journal-article"},{"id":"pmid:25421800","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25421800","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":"Clinical chemistry","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3081205391","https://openalex.org/W173536229","https://openalex.org/W308566075","https://openalex.org/W4386776185","https://openalex.org/W2260065700","https://openalex.org/W2327106142","https://openalex.org/W2742487486","https://openalex.org/W2906913602","https://openalex.org/W2036248763","https://openalex.org/W2051380427"],"abstract_inverted_index":{"Next":[0],"generation":[1],"sequencing":[2,10],"(NGS)13":[3],"technology,":[4],"also":[5],"known":[6],"as":[7],"massively":[8],"parallel":[9],"(MPS),":[11],"is":[12,58],"being":[13,191],"incorporated":[14],"rapidly":[15],"to":[16,84,115,118],"clinical":[17,94,123],"laboratory":[18],"testing.":[19],"Current":[20],"applications":[21],"include":[22],"detection":[23],"of":[24,35,68,78,81,140,169,181,187],"germline":[25],"variants":[26,31],"in":[27,32,45,50,86,103],"inherited":[28],"diseases,":[29,107,110],"somatic":[30],"cancers,":[33],"subpopulations":[34],"circulating":[36],"cell-free":[37],"DNA,":[38],"and":[39,60,64,74,76,89,111,125,132,137,145,154,162,174,184],"single":[40],"viral":[41],"or":[42,47,52],"microbial":[43],"genomes":[44,49],"infections":[46],"metamicrobial":[48],"normal":[51],"altered":[53],"human":[54],"flora.":[55],"Each":[56],"application":[57],"unique":[59],"has":[61],"its":[62],"advantages":[63],"disadvantages.":[65],"The":[66,135,172],"complexity":[67],"the":[69,179,182],"NGS":[70],"processes":[71],"(specimen":[72],"preparation":[73],"testing":[75,168],"analysis":[77],"large":[79],"amounts":[80],"data)":[82],"leads":[83],"challenges":[85,183],"validation,":[87],"QC,":[88],"data":[90],"interpretation":[91],"beyond":[92],"what":[93],"laboratories":[95],"have":[96],"previously":[97],"encountered.":[98],"In":[99],"this":[100,120],"Q&A,":[101],"experts":[102,136],"each":[104],"field":[105],"(inherited":[106,148],"cancer,":[108],"infectious":[109],"pregnancy":[112],"testing)":[113],"respond":[114],"questions":[116],"relevant":[117],"adapting":[119],"technology":[121],"for":[122],"testing,":[124],"their":[126,129,138],"responses":[127],"represent":[128],"own":[130],"viewpoints":[131],"discipline-specific":[133],"experiences.":[134],"areas":[139],"interest":[141],"are:":[142],"Sherri":[143],"Bale":[144],"Jill":[146],"Hagenkord":[147],"diseases);":[149,161],"Richard":[150],"Press,":[151],"Carol":[152],"Beadling,":[153],"Shashikant":[155],"Kulkarni":[156],"(oncology);":[157],"Lynn":[158],"Bry":[159],"(infectious":[160],"Glenn":[163],"Palomaki":[164],"(noninvasive":[165],"prenatal":[166],"genetic":[167],"maternal":[170],"plasma).":[171],"experiences":[173],"opinions":[175],"they":[176,189],"share":[177],"demonstrate":[178],"diversity":[180],"provide":[185],"examples":[186],"how":[188],"are":[190],"addressed.":[192]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}