{"id":"https://openalex.org/W7225142249","doi":"https://doi.org/10.54254/2755-2721/2026.38442","title":"Artificial Intelligence in Genetic Testing: From Variant Calling to Variant Interpretation","display_name":"Artificial Intelligence in Genetic Testing: From Variant Calling to Variant Interpretation","publication_year":2026,"publication_date":"2026-11-03","ids":{"openalex":"https://openalex.org/W7225142249","doi":"https://doi.org/10.54254/2755-2721/2026.38442"},"language":"en","primary_location":{"id":"doi:10.54254/2755-2721/2026.38442","doi":"https://doi.org/10.54254/2755-2721/2026.38442","is_oa":true,"landing_page_url":"https://doi.org/10.54254/2755-2721/2026.38442","pdf_url":"https://ace.ewapub.com/article/view/38442.pdf","source":{"id":"https://openalex.org/S4387281889","display_name":"Applied and Computational Engineering","issn_l":"2755-2721","issn":["2755-2721","2755-273X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Applied and Computational Engineering","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://ace.ewapub.com/article/view/38442.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5138706890","display_name":"Ziyi Peng","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Ziyi Peng","raw_affiliation_strings":["Immersion Academy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immersion Academy","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5138706890"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.82654737,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"280","issue":"1","first_page":"None","last_page":"None"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9282000064849854,"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":0.9282000064849854,"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/T11636","display_name":"Artificial Intelligence in Healthcare and Education","score":0.06989999860525131,"subfield":{"id":"https://openalex.org/subfields/2718","display_name":"Health Informatics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.00019999999494757503,"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/artificial-intelligence","display_name":"artificial intelligence","score":0.8519999980926514},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.9940000176429749},{"id":"https://openalex.org/keywords/variant-calling","display_name":"variant calling","score":0.9980000257492065},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.9950000047683716},{"id":"https://openalex.org/keywords/clinical-decision-support","display_name":"clinical decision support","score":0.6830000281333923},{"id":"https://openalex.org/keywords/multimodal-models","display_name":"multimodal models","score":0.8180000185966492},{"id":"https://openalex.org/keywords/foundation-models","display_name":"foundation models","score":0.9959999918937683},{"id":"https://openalex.org/keywords/sequencing-noise","display_name":"sequencing noise","score":0.5540000200271606},{"id":"https://openalex.org/keywords/human-expertise","display_name":"human expertise","score":0.38100001215934753},{"id":"https://openalex.org/keywords/diagnosis","display_name":"diagnosis","score":0.6060000061988831},{"id":"https://openalex.org/keywords/explainability","display_name":"explainability","score":0.3799999952316284}],"concepts":[{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.5846999883651733},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5706999897956848},{"id":"https://openalex.org/C527412718","wikidata":"https://www.wikidata.org/wiki/Q855395","display_name":"Interpretation (philosophy)","level":2,"score":0.555899977684021},{"id":"https://openalex.org/C2993807623","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genetic data","level":3,"score":0.5078999996185303},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.49219998717308044},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.39309999346733093},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.35350000858306885},{"id":"https://openalex.org/C2776291640","wikidata":"https://www.wikidata.org/wiki/Q2912517","display_name":"Value (mathematics)","level":2,"score":0.33230000734329224},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.3199000060558319},{"id":"https://openalex.org/C9287583","wikidata":"https://www.wikidata.org/wiki/Q5532883","display_name":"Genetic architecture","level":4,"score":0.30480000376701355},{"id":"https://openalex.org/C2779304628","wikidata":"https://www.wikidata.org/wiki/Q3503480","display_name":"Face (sociological concept)","level":2,"score":0.3037000000476837},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.29750001430511475},{"id":"https://openalex.org/C2992519594","wikidata":"https://www.wikidata.org/wiki/Q870433","display_name":"Genetic model","level":3,"score":0.29350000619888306},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.2930999994277954},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.28700000047683716},{"id":"https://openalex.org/C98045186","wikidata":"https://www.wikidata.org/wiki/Q205663","display_name":"Process (computing)","level":2,"score":0.28110000491142273},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.27300000190734863},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.2556000053882599},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.2551000118255615},{"id":"https://openalex.org/C8880873","wikidata":"https://www.wikidata.org/wiki/Q187787","display_name":"Genetic algorithm","level":2,"score":0.2535000145435333},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2500999867916107}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.54254/2755-2721/2026.38442","doi":"https://doi.org/10.54254/2755-2721/2026.38442","is_oa":true,"landing_page_url":"https://doi.org/10.54254/2755-2721/2026.38442","pdf_url":"https://ace.ewapub.com/article/view/38442.pdf","source":{"id":"https://openalex.org/S4387281889","display_name":"Applied and Computational Engineering","issn_l":"2755-2721","issn":["2755-2721","2755-273X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Applied and Computational Engineering","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.54254/2755-2721/2026.38442","doi":"https://doi.org/10.54254/2755-2721/2026.38442","is_oa":true,"landing_page_url":"https://doi.org/10.54254/2755-2721/2026.38442","pdf_url":"https://ace.ewapub.com/article/view/38442.pdf","source":{"id":"https://openalex.org/S4387281889","display_name":"Applied and Computational Engineering","issn_l":"2755-2721","issn":["2755-2721","2755-273X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Applied and Computational Engineering","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.5683000087738037,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225142249.pdf","grobid_xml":"https://content.openalex.org/works/W7225142249.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7135038235","https://openalex.org/W7120104799","https://openalex.org/W7154009929","https://openalex.org/W4409710424","https://openalex.org/W7155369705","https://openalex.org/W7133804546","https://openalex.org/W7168204151","https://openalex.org/W7133846192","https://openalex.org/W3207534753","https://openalex.org/W7171498340"],"abstract_inverted_index":{"Genetic":[0],"testing":[1,157],"may":[2,40,128],"help":[3,129],"diagnose":[4],"diseases":[5],"by":[6,43],"finding":[7],"genetic":[8,79,156],"variants,":[9],"with":[10,25],"variant":[11,14],"calling":[12,21],"and":[13,29,57,65,74,116,125,142,158],"interpretation":[15,34],"as":[16,50,96],"its":[17],"main":[18,107,161],"steps.":[19],"Variant":[20,33],"compares":[22],"sequencing":[23,61],"data":[24],"a":[26],"reference":[27],"genome":[28],"identifies":[30],"possible":[31],"variants.":[32],"then":[35],"assesses":[36],"whether":[37],"these":[38,89],"variants":[39],"cause":[41],"disease":[42,67],"using":[44],"different":[45,112],"types":[46,132],"of":[47,78,133,152],"evidence,":[48],"such":[49],"allele":[51],"frequency,":[52],"phenotype":[53],"matching,":[54],"review":[55,148],"status,":[56],"familial":[58],"evidence.":[59],"However,":[60],"noise,":[62],"alignment":[63],"problems,":[64],"complex":[66],"mechanisms":[68],"can":[69,85],"still":[70],"affect":[71],"both":[72],"steps":[73],"reduce":[75],"the":[76,150,160],"accuracy":[77],"testing.":[80],"Artificial":[81],"Intelligence":[82],"(AI)":[83],"tools":[84,98,154],"find":[86],"patterns":[87],"across":[88,111],"processes,":[90],"but":[91],"they":[92],"currently":[93],"work":[94],"mainly":[95],"decision-support":[97],"rather":[99],"than":[100],"independent":[101,165],"evaluators.":[102],"They":[103],"also":[104,168],"face":[105],"three":[106],"problems:":[108],"poor":[109],"performance":[110,143],"datasets,":[113],"unexplainable":[114],"outputs,":[115],"frequent":[117],"errors":[118],"in":[119,144,155],"training":[120],"data.":[121],"New":[122],"multimodal":[123],"models":[124,127],"foundation":[126],"combine":[130],"more":[131],"information.":[134],"Still,":[135],"researchers":[136],"need":[137],"to":[138,163],"confirm":[139],"their":[140,164],"safety":[141],"clinical":[145,177],"settings.":[146],"This":[147],"examines":[149],"value":[151],"AI":[153],"discusses":[159],"barriers":[162],"use.":[166],"It":[167],"explains":[169],"why":[170],"human":[171],"expertise":[172],"remains":[173],"essential":[174],"for":[175],"final":[176],"diagnosis.":[178]},"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2026-11-04T00:00:00"}