{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T12:08:40Z","timestamp":1775822920892,"version":"3.50.1"},"reference-count":46,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T00:00:00Z","timestamp":1772582400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"vor","delay-in-days":37,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100001821","name":"Vienna Science and Technology Fund","doi-asserted-by":"publisher","award":["ME-CFS24-002"],"award-info":[{"award-number":["ME-CFS24-002"]}],"id":[{"id":"10.13039\/501100001821","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"DOI":"10.1186\/s12859-026-06414-2","type":"journal-article","created":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T20:44:38Z","timestamp":1772657078000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["ACVI-Med, an open source variant interpretation tool for medical genomics"],"prefix":"10.1186","volume":"27","author":[{"given":"Moritz","family":"Stadler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabina","family":"Gansberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliane","family":"Borik-Heil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Griss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang P.","family":"Weninger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Wielscher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,4]]},"reference":[{"key":"6414_CR1","doi-asserted-by":"publisher","first-page":"1868","DOI":"10.1056\/NEJMoa2035790","volume":"385","author":"D Smedley","year":"2021","unstructured":"Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, et al. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care \u2014 Preliminary Report. N Engl J Med. 2021;385:1868\u201380. https:\/\/doi.org\/10.1056\/NEJMoa2035790.","journal-title":"N Engl J Med"},{"key":"6414_CR2","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"key":"6414_CR3","doi-asserted-by":"publisher","first-page":"100866","DOI":"10.1016\/j.gim.2023.100866","volume":"25","author":"DT Miller","year":"2023","unstructured":"Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25:100866. https:\/\/doi.org\/10.1016\/j.gim.2023.100866.","journal-title":"Genet Med"},{"key":"6414_CR4","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/gim.2013.73","volume":"15","author":"RC Green","year":"2013","unstructured":"Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med Off J Am Coll Med Genet. 2013;15:565\u201374. https:\/\/doi.org\/10.1038\/gim.2013.73.","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"6414_CR5","doi-asserted-by":"publisher","first-page":"100029","DOI":"10.1016\/j.xgen.2021.100029","volume":"1","author":"HL Rehm","year":"2021","unstructured":"Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, et al. GA4GH: international policies and standards for data sharing across genomic research and healthcare. Cell Genomics. 2021;1:100029. https:\/\/doi.org\/10.1016\/j.xgen.2021.100029","journal-title":"Cell Genomics"},{"key":"6414_CR6","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","volume":"51","author":"AR Martin","year":"2019","unstructured":"Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019;51:1560\u20135. https:\/\/doi.org\/10.1038\/s41588-019-0528-2.","journal-title":"Nat Genet"},{"key":"6414_CR7","doi-asserted-by":"publisher","DOI":"10.1101\/2024.01.02.573821","author":"S Behera","year":"2024","unstructured":"Behera S, Catreux S, Rossi M, Truong S, Huang Z, Ruehle M, et al. Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. BioRxiv Prepr Serv Biol. 2024. https:\/\/doi.org\/10.1101\/2024.01.02.573821. :2024.01.02.573821.","journal-title":"BioRxiv Prepr Serv Biol"},{"key":"6414_CR8","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","volume":"17","author":"W McLaren","year":"2016","unstructured":"McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GRS, Thormann A, et al. The Ensembl Variant Effect Predictor. Genome Biol. 2016;17:122. https:\/\/doi.org\/10.1186\/s13059-016-0974-4.","journal-title":"Genome Biol"},{"key":"6414_CR9","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164\u2013164. https:\/\/doi.org\/10.1093\/nar\/gkq603.","journal-title":"Nucleic Acids Res"},{"key":"6414_CR10","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","volume":"6","author":"P Cingolani","year":"2012","unstructured":"Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w. iso-2; iso-3 Fly (Austin). 2012;6:80\u201392. https:\/\/doi.org\/10.4161\/fly.19695.","journal-title":"iso-2; iso-3 Fly (Austin)"},{"key":"6414_CR11","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","volume":"46","author":"MJ Landrum","year":"2018","unstructured":"Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46:D1062\u20137. https:\/\/doi.org\/10.1093\/nar\/gkx1153.","journal-title":"Nucleic Acids Res"},{"key":"6414_CR12","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alf\u00f6ldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434\u201343. https:\/\/doi.org\/10.1038\/s41586-020-2308-7.","journal-title":"Nature"},{"key":"6414_CR13","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1093\/nar\/gki033","volume":"33","author":"A Hamosh","year":"2005","unstructured":"Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005;33:514\u20137. https:\/\/doi.org\/10.1093\/nar\/gki033. Database issue:D.","journal-title":"Nucleic Acids Res"},{"key":"6414_CR14","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","volume":"35","author":"C Kopanos","year":"2019","unstructured":"Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, et al. VarSome: the human genomic variant search engine. Bioinformatics. 2019;35:1978\u201380. https:\/\/doi.org\/10.1093\/bioinformatics\/bty897.","journal-title":"Bioinformatics"},{"key":"6414_CR15","doi-asserted-by":"publisher","first-page":"2004","DOI":"10.1038\/nprot.2015.124","volume":"10","author":"D Smedley","year":"2015","unstructured":"Smedley D, Jacobsen JOB, J\u00e4ger M, K\u00f6hler S, Holtgrewe M, Schubach M, et al. Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc. 2015;10:2004\u201315. https:\/\/doi.org\/10.1038\/nprot.2015.124.","journal-title":"Nat Protoc"},{"issue":"6","key":"6414_CR16","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1002\/humu.24366","volume":"43","author":"LS Pais","year":"2022","unstructured":"Pais LS, Snow H, Weisburd B, Zhang S, Baxter SM, DiTroia S, O'Heir E, England E, Chao KR, Lemire G, Osei\u2010Owusu I. Seqr: a web\u2010based analysis and collaboration tool for rare disease genomics. Hum Mutat. 2022;43(6):698\u2013707. . https:\/\/doi.org\/10.1002\/humu.24366","journal-title":"Hum Mutat"},{"key":"6414_CR17","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1038\/s43018-022-00332-x","volume":"3","author":"D Tamborero","year":"2022","unstructured":"Tamborero D, Dienstmann R, Rachid MH, Boekel J, Lopez-Fernandez A, Jonsson M, et al. The molecular tumor board portal supports clinical decisions and automated reporting for precision oncology. Nat Cancer. 2022;3:251\u201361. https:\/\/doi.org\/10.1038\/s43018-022-00332-x.","journal-title":"Nat Cancer"},{"key":"6414_CR18","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, R\u00f6delsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575\u20136. https:\/\/doi.org\/10.1038\/nmeth0810-575.","journal-title":"Nat Methods"},{"key":"6414_CR19","doi-asserted-by":"publisher","first-page":"e1003285","DOI":"10.1371\/journal.pcbi.1003285","volume":"9","author":"GK Sandve","year":"2013","unstructured":"Sandve GK, Nekrutenko A, Taylor J, Hovig E. Ten Simple Rules for Reproducible Computational Research. PLoS Comput Biol. 2013;9:e1003285. https:\/\/doi.org\/10.1371\/journal.pcbi.1003285.","journal-title":"PLoS Comput Biol"},{"key":"6414_CR20","doi-asserted-by":"publisher","unstructured":"Public Population Project in Genomics and Society (P3G) International Steering Committee, International Cancer Genome Consortium (ICGC) Ethics and Policy Committee, Dove ES, Joly Y, Tass\u00e9 A-M, Knoppers BM. Genomic cloud computing: legal and ethical points to consider. Eur J Hum Genet. 2015;23:1271\u20131278. https:\/\/doi.org\/10.1038\/ejhg.2014.196","DOI":"10.1038\/ejhg.2014.196"},{"key":"6414_CR21","unstructured":"PostgreSQL. Global Development Group. PostgreSQL."},{"key":"6414_CR22","doi-asserted-by":"publisher","first-page":"D1333","DOI":"10.1093\/nar\/gkad1005","volume":"52","author":"MA Gargano","year":"2024","unstructured":"Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, et al. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024;52:D1333\u201346. https:\/\/doi.org\/10.1093\/nar\/gkad1005.","journal-title":"Nucleic Acids Res"},{"key":"6414_CR23","doi-asserted-by":"publisher","first-page":"1614","DOI":"10.1002\/humu.23645","volume":"39","author":"EA Rivera-Mu\u00f1oz","year":"2018","unstructured":"Rivera-Mu\u00f1oz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, et al. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene\u2010level specification of the ACMG\/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018;39:1614\u201322. https:\/\/doi.org\/10.1002\/humu.23645.","journal-title":"Hum Mutat"},{"key":"6414_CR24","doi-asserted-by":"publisher","first-page":"2156","DOI":"10.1093\/bioinformatics\/btr330","volume":"27","author":"P Danecek","year":"2011","unstructured":"Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, et al. The variant call format and VCFtools. Bioinforma Oxf Engl. 2011;27:2156\u20138. https:\/\/doi.org\/10.1093\/bioinformatics\/btr330.","journal-title":"Bioinforma Oxf Engl"},{"key":"6414_CR25","doi-asserted-by":"publisher","first-page":"3812","DOI":"10.1093\/nar\/gkg509","volume":"31","author":"PC Ng","year":"2003","unstructured":"Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812\u20134. https:\/\/doi.org\/10.1093\/nar\/gkg509.","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"6414_CR26","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/0471142905.hg0720s76","volume":"76","author":"I Adzhubei","year":"2013","unstructured":"Adzhubei I, Jordan DM, Sunyaev SR Predicting functional effect of human missense mutations using PolyPhen\u20102. Curr protocols Hum Genet. 2013;76(1):7\u201320. . https:\/\/doi.org\/10.1002\/0471142905.hg0720s76.","journal-title":"Curr protocols Hum Genet"},{"key":"6414_CR27","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1093\/bioinformatics\/btu703","volume":"31","author":"D Quang","year":"2015","unstructured":"Quang D, Chen Y, Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinforma Oxf Engl. 2015;31:761\u20133. https:\/\/doi.org\/10.1093\/bioinformatics\/btu703.","journal-title":"Bioinforma Oxf Engl"},{"key":"6414_CR28","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1101\/gr.3577405","volume":"15","author":"GM Cooper","year":"2005","unstructured":"Cooper GM, Stone EA, Asimenos G, Comparative Sequencing NISC, Program, Green ED, Batzoglou S, et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005;15:901\u201313. https:\/\/doi.org\/10.1101\/gr.3577405.","journal-title":"Genome Res"},{"key":"6414_CR29","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","volume":"590","author":"D Taliun","year":"2021","unstructured":"Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021;590:290\u20139. https:\/\/doi.org\/10.1038\/s41586-021-03205-y.","journal-title":"Nature"},{"key":"6414_CR30","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/gm145","volume":"2","author":"R Dalgleish","year":"2010","unstructured":"Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, et al. Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med. 2010;2:24. https:\/\/doi.org\/10.1186\/gm145.","journal-title":"Genome Med"},{"key":"6414_CR31","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1101\/gr.229102","volume":"12","author":"WJ Kent","year":"2002","unstructured":"Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The human genome browser at UCSC. Genome Res. 2002;12:996\u20131006. https:\/\/doi.org\/10.1101\/gr.229102.","journal-title":"Genome Res"},{"key":"6414_CR32","doi-asserted-by":"publisher","first-page":"D221","DOI":"10.1093\/nar\/gkx1031","volume":"46","author":"S Pujar","year":"2018","unstructured":"Pujar S, O\u2019Leary NA, Farrell CM, Loveland JE, Mudge JM, Wallin C, et al. Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation. Nucleic Acids Res. 2018;46:D221\u20138. https:\/\/doi.org\/10.1093\/nar\/gkx1031.","journal-title":"Nucleic Acids Res"},{"key":"6414_CR33","doi-asserted-by":"publisher","first-page":"D682","DOI":"10.1093\/nar\/gkz966","volume":"48","author":"AD Yates","year":"2020","unstructured":"Yates AD, Achuthan P, Akanni W, Allen J, Allen J, Alvarez-Jarreta J, et al. Ensembl 2020. Nucleic Acids Res. 2020;48:D682\u20138. https:\/\/doi.org\/10.1093\/nar\/gkz966.","journal-title":"Nucleic Acids Res"},{"key":"6414_CR34","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh131","author":"R Apweiler","year":"2004","unstructured":"Apweiler R, Bairoch A, Wu CH, Barker WC, Boeckmann B, Ferro S, et al. UniProt: the Universal Protein knowledgebase. Nucleic Acids Res. 2004. https:\/\/doi.org\/10.1093\/nar\/gkh131. 32 Database issue:D115-119.","journal-title":"Nucleic Acids Res"},{"key":"6414_CR35","doi-asserted-by":"publisher","first-page":"3236","DOI":"10.1093\/bioinformatics\/bth191","volume":"20","author":"R Leinonen","year":"2004","unstructured":"Leinonen R, Diez FG, Binns D, Fleischmann W, Lopez R, Apweiler R. UniProt archive. Bioinforma Oxf Engl. 2004;20:3236\u20137. https:\/\/doi.org\/10.1093\/bioinformatics\/bth191.","journal-title":"Bioinforma Oxf Engl"},{"key":"6414_CR36","doi-asserted-by":"publisher","first-page":"577152","DOI":"10.3389\/fgene.2020.577152","volume":"11","author":"LM Chunn","year":"2020","unstructured":"Chunn LM, Nefcy DC, Scouten RW, Tarpey RP, Chauhan G, Lim MS, et al. Mastermind: a comprehensive genomic association search engine for empirical evidence curation and genetic variant interpretation. Front Genet. 2020;11:577152. https:\/\/doi.org\/10.3389\/fgene.2020.577152.","journal-title":"Front Genet"},{"key":"6414_CR37","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/nprot.2015.123","volume":"11","author":"R Vaser","year":"2016","unstructured":"Vaser R, Adusumalli S, Leng SN, Sikic M, Ng PC. SIFT missense predictions for genomes. Nat Protoc. 2016;11:1\u20139. https:\/\/doi.org\/10.1038\/nprot.2015.123.","journal-title":"Nat Protoc"},{"key":"6414_CR38","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1002\/humu.22225","volume":"34","author":"HA Shihab","year":"2013","unstructured":"Shihab HA, Gough J, Cooper DN, Stenson PD, Barker GLA, Edwards KJ, et al. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat. 2013;34:57\u201365. https:\/\/doi.org\/10.1002\/humu.22225.","journal-title":"Hum Mutat"},{"key":"6414_CR39","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1038\/s41588-018-0167-z","volume":"50","author":"L Sundaram","year":"2018","unstructured":"Sundaram L, Gao H, Padigepati SR, McRae JF, Li Y, Kosmicki JA, et al. Predicting the clinical impact of human mutation with deep neural networks. Nat Genet. 2018;50:1161\u201370. https:\/\/doi.org\/10.1038\/s41588-018-0167-z.","journal-title":"Nat Genet"},{"key":"6414_CR40","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s13040-017-0126-8","volume":"10","author":"S Kim","year":"2017","unstructured":"Kim S, Jhong J-H, Lee J, Koo J-Y. Meta-analytic support vector machine for integrating multiple omics data. BioData Min. 2017;10:2. https:\/\/doi.org\/10.1186\/s13040-017-0126-8.","journal-title":"BioData Min"},{"key":"6414_CR41","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, et al. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. Am J Hum Genet. 2016;99:877\u201385. https:\/\/doi.org\/10.1016\/j.ajhg.2016.08.016.","journal-title":"Am J Hum Genet"},{"key":"6414_CR42","doi-asserted-by":"publisher","first-page":"D30","DOI":"10.1093\/nar\/gks1175","volume":"41","author":"G Cochrane","year":"2012","unstructured":"Cochrane G, Alako B, Amid C, Bower L, Cerde\u00f1o-T\u00e1rraga A, Cleland I, et al. Facing growth in the European Nucleotide Archive. Nucleic Acids Res. 2012;41:D30\u20135. https:\/\/doi.org\/10.1093\/nar\/gks1175.","journal-title":"Nucleic Acids Res"},{"key":"6414_CR43","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The Sequence Alignment\/Map format and SAMtools. Bioinforma Oxf Engl. 2009;25:2078\u20139. https:\/\/doi.org\/10.1093\/bioinformatics\/btp352.","journal-title":"Bioinforma Oxf Engl"},{"key":"6414_CR44","doi-asserted-by":"publisher","first-page":"btac830","DOI":"10.1093\/bioinformatics\/btac830","volume":"39","author":"JT Robinson","year":"2023","unstructured":"Robinson JT, Thorvaldsdottir H, Turner D, Mesirov JP. igv.js: an embeddable JavaScript implementation of the Integrative Genomics Viewer (IGV). Bioinforma Oxf Engl. 2023;39:btac830. https:\/\/doi.org\/10.1093\/bioinformatics\/btac830.","journal-title":"Bioinforma Oxf Engl"},{"key":"6414_CR45","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1093\/bib\/bbs017","volume":"14","author":"H Thorvaldsd\u00f3ttir","year":"2013","unstructured":"Thorvaldsd\u00f3ttir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform. 2013;14:178\u201392. https:\/\/doi.org\/10.1093\/bib\/bbs017.","journal-title":"Brief Bioinform"},{"key":"6414_CR46","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1007\/978-1-62703-435-7_20","volume-title":"Pharmacogenomics","author":"CF Thorn","year":"2013","unstructured":"Thorn CF, Klein TE, Altman RB. PharmGKB: The Pharmacogenomics Knowledge Base. In: Innocenti F, Van Schaik RHN, editors. Pharmacogenomics. Totowa, NJ: Humana; 2013. pp. 311\u201320. https:\/\/doi.org\/10.1007\/978-1-62703-435-7_20."}],"container-title":["BMC Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12859-026-06414-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-026-06414-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-026-06414-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T11:27:16Z","timestamp":1775820436000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12859-026-06414-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,4]]},"references-count":46,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["6414"],"URL":"https:\/\/doi.org\/10.1186\/s12859-026-06414-2","relation":{},"ISSN":["1471-2105"],"issn-type":[{"value":"1471-2105","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,4]]},"assertion":[{"value":"22 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 February 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable, no clinical trial number.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"85"}}