{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T10:06:10Z","timestamp":1782122770404,"version":"3.54.5"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Washington University Institute of Clinical and Translational Sciences","award":["UL1TR002345"],"award-info":[{"award-number":["UL1TR002345"]}]},{"name":"National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health"},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["1R03 NS127256"],"award-info":[{"award-number":["1R03 NS127256"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013927","name":"National MPS Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013927","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Molecular genetic testing is increasingly used in clinical care to identify genetic variants and their impact on disease burden. However, variants of uncertain significance (VUS) hamper the utility of molecular diagnostic testing. In patients presenting with Hunter Syndrome and VUS in the IDS gene, clinical testing for iduronate-2-sulfatase enzyme activity has been the mainstay to determine whether a variant is likely damaging. However, enzyme assays alone fail to predict disease severity. In this study, we developed an image-based cellular assay using genome-engineered cells with IDS variants to determine whether a specific variant causes morphological changes that are associated with disease. Specifically, we generated twelve mutant cell lines and documented both IDS biochemical activity and reproducible phenotypic differences therein. Next, we examined patient-derived cell lines and found the same phenotypic differences compared to parental controls. The morphological changes were complex, but measured on a single scale, which we termed PathScoreLC. To determine whether the observed changes are specific to IDS, we reintroduced a recombinant human IDS enzyme (rhIDS) to rescue both the biochemical and phenotypic changes of these cells. We found a partial rescue in the presence of corrective levels of IDS enzyme. Finally, we examined the differences in gene expression and found that a recombinant enzyme was not sufficient to fully restore transcriptional changes in the mutant lines at the time points studied. This proof-of-concept study establishes preliminary validation of the method and sets the stage for future functional studies and broader IDS variant testing.<\/jats:p>","DOI":"10.1093\/hmg\/ddag014","type":"journal-article","created":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T12:44:10Z","timestamp":1771937050000},"source":"Crossref","is-referenced-by-count":1,"title":["Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-8140-8936","authenticated-orcid":false,"given":"Anushka","family":"Viswanathan","sequence":"first","affiliation":[{"name":"College of Arts & Sciences, Washington University in St. Louis , 1 Brookings Drive St. St. Louis, MO 63130 ,","place":["United States"]},{"name":"Roy and Diana Vagelos Division of Biology & Biomedical Sciences, Washington University School of Medicine , 660 S. Euclid Ave, St. Louis, MO 63130 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8428-3456","authenticated-orcid":false,"given":"Serena","family":"Elia","sequence":"additional","affiliation":[{"name":"College of Arts & Sciences, Washington University in St. Louis , 1 Brookings Drive St. St. Louis, MO 63130 ,","place":["United States"]},{"name":"McDonnell Genome Institute, Washington University School of Medicine , 4444 Forest Park Ave, St. Louis, MO 63108 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3935-0653","authenticated-orcid":false,"given":"Steven Q","family":"Le","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Washington University School of Medicine , 660 S Euclid Ave, St. Louis, MO 63110 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4933-2316","authenticated-orcid":false,"given":"Sarah","family":"Hurt","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology, College of Veterinary Medicine and Bond Life Sciences Center, University of Missouri , 1500 Bouchelle Ave, Columbia, MO 65201 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3347-5013","authenticated-orcid":false,"given":"Balraj","family":"Doray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Washington University School of Medicine , 660 S Euclid Ave, St. Louis, MO 63110 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8422-6004","authenticated-orcid":false,"given":"Jason","family":"Waligorski","sequence":"additional","affiliation":[{"name":"McDonnell Genome Institute, Washington University School of Medicine , 4444 Forest Park Ave, St. Louis, MO 63108 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-2188-5166","authenticated-orcid":false,"given":"Kylan","family":"Kelley","sequence":"additional","affiliation":[{"name":"McDonnell Genome Institute, Washington University School of Medicine , 4444 Forest Park Ave, St. Louis, MO 63108 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6675-6359","authenticated-orcid":false,"given":"William","family":"Buchser","sequence":"additional","affiliation":[{"name":"McDonnell Genome Institute, Washington University School of Medicine , 4444 Forest Park Ave, St. Louis, MO 63108 , United States"},{"name":"Department of Genetics, Washington University School of Medicine , 4515 McKinley Ave, St. Louis, MO 63110 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3467-8488","authenticated-orcid":false,"given":"Patricia","family":"Dickson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Washington University School of Medicine , 660 S Euclid Ave, St. Louis, MO 63110 , United States"},{"name":"Department of Genetics, Washington University School of Medicine , 4515 McKinley Ave, St. Louis, MO 63110 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,3,12]]},"reference":[{"key":"2026051101370861600_ref1","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2026051101370861600_ref2","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1002\/humu.24309","article-title":"Variant interpretation using population databases: lessons from gnomAD","volume":"43","author":"Gudmundsson","year":"2022","journal-title":"Hum Mutat"},{"key":"2026051101370861600_ref3","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1080\/21678707.2017.1296761","article-title":"Presentation and treatments for Mucopolysaccharidosis type II (MPS II; hunter syndrome)","volume":"5","author":"Stapleton","year":"2017","journal-title":"Expert Opin Orphan Drugs"},{"key":"2026051101370861600_ref4","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1023\/A:1012763026526","article-title":"A fluorimetric enzyme assay for the diagnosis of MPS II (hunter disease)","volume":"4","author":"Voznyi","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"2026051101370861600_ref5","volume-title":"Mucopolysaccharidosis type II","author":"Health Resources and Services Administration (HRSA)","year":".."},{"key":"2026051101370861600_ref6","doi-asserted-by":"crossref","first-page":"100947","DOI":"10.1016\/j.gim.2023.100947","article-title":"The landscape of reported VUS in multi-gene panel and genomic testing: time for a change","volume":"25","author":"Rehm","year":"2023","journal-title":"Genet. Med."},{"key":"2026051101370861600_ref7","volume-title":"Newborn screening education and resources","author":"Baby\u2019s First Test","year":".."},{"key":"2026051101370861600_ref8","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3390\/ijns8040055","article-title":"Addition of MPS-II to the recommended uniform screening panel in the United States","volume":"8","author":"Millington","year":"2022","journal-title":"Int J Neonatal Screen"},{"key":"2026051101370861600_ref9","doi-asserted-by":"publisher","first-page":"1067","DOI":"10.1016\/j.ajhg.2016.03.024","article-title":"Performance of ACMG-AMP variant-interpretation guidelines among nine Laboratories in the Clinical Sequencing Exploratory Research Consortium","volume":"98","author":"Amendola","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2026051101370861600_ref10","doi-asserted-by":"publisher","first-page":"932","DOI":"10.1016\/j.ajhg.2020.09.011","article-title":"Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies","volume":"107","author":"Amendola","year":"2020","journal-title":"Am J Hum Genet"},{"key":"2026051101370861600_ref11","first-page":"100845","article-title":"Timing is everything: clinical courses of hunter syndrome associated with age at initiation of therapy in a sibling pair","volume":"30","author":"Grant","year":"2022","journal-title":"Mol Genet Metab Rep"},{"key":"2026051101370861600_ref12","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1111\/j.1651-2227.2012.02674.x","article-title":"Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases","volume":"101","author":"Tomanin","year":"2012","journal-title":"Acta Paediatr"},{"key":"2026051101370861600_ref13","doi-asserted-by":"crossref","first-page":"114","DOI":"10.3390\/ijms21010114","article-title":"Identification and functional characterization of IDS gene mutations underlying Taiwanese hunter syndrome (Mucopolysaccharidosis type II)","volume":"21","author":"Lin","year":"2019","journal-title":"Int J Mol Sci"},{"key":"2026051101370861600_ref14","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2026051101370861600_ref15","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1002\/humu.24373","article-title":"Seven years since the launch of the matchmaker exchange: the evolution of genomic matchmaking","volume":"43","author":"Boycott","year":"2022","journal-title":"Hum Mutat"},{"key":"2026051101370861600_ref16","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"key":"2026051101370861600_ref17","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"2026051101370861600_ref18","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"2026051101370861600_ref19","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1186\/s13023-021-01839-9","article-title":"Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision","volume":"16","author":"Baldridge","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"2026051101370861600_ref20","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1038\/gim.2016.224","article-title":"The exome clinic and the role of medical genetics expertise in the interpretation of exome sequencing results","volume":"19","author":"Baldridge","year":"2017","journal-title":"Genet Med"},{"key":"2026051101370861600_ref21","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1016\/j.gim.2021.08.009","article-title":"US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: a study by the clinical sequencing evidence-generating research consortium (CSER)","volume":"24","author":"Phillips","year":"2022","journal-title":"Genet. Med."},{"key":"2026051101370861600_ref22","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1038\/s41436-019-0650-7","article-title":"Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: results of a study from the program in prenatal and Pediatric genomic sequencing (P3EGS)","volume":"22","author":"Trosman","year":"2020","journal-title":"Genet. Med."},{"key":"2026051101370861600_ref23","doi-asserted-by":"publisher","first-page":"2029","DOI":"10.1038\/s41436-021-01242-6","article-title":"Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Manickam","year":"2021","journal-title":"Genet. Med."},{"key":"2026051101370861600_ref24","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/B978-008044859-6\/50011-3","volume-title":"Chemistry and Biology of Heparin and Heparan Sulfate","author":"Meikle","year":"2005"},{"key":"2026051101370861600_ref25","volume-title":"StatPearls [Internet]","author":"Hashmi","year":"2023"},{"key":"2026051101370861600_ref26","doi-asserted-by":"crossref","first-page":"104447","DOI":"10.1016\/j.ejmg.2022.104447","article-title":"Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II","volume":"65","author":"Agrawal","year":"2022","journal-title":"Eur J Med Genet"},{"key":"2026051101370861600_ref27","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1038\/s42003-022-04089-y","article-title":"Pooled image-base screening of mitochondria with microraft isolation distinguishes pathogenic mitofusin 2 mutations","volume":"5","author":"Yenkin","year":"2022","journal-title":"Commun Biol"},{"key":"2026051101370861600_ref28","doi-asserted-by":"crossref","first-page":"13438","DOI":"10.1038\/s41598-017-13438-5","article-title":"Turnover and flow of the cell membrane for cell migration","volume":"7","author":"Tanaka","year":"2017","journal-title":"Sci Rep"},{"key":"2026051101370861600_ref29","doi-asserted-by":"crossref","first-page":"11724","DOI":"10.3390\/ijms231911724","article-title":"Pathogenic roles of Heparan Sulfate and its use as a biomarker in Mucopolysaccharidoses","volume":"23","author":"Minami","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2026051101370861600_ref30","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1097\/gim.0b013e31817701e6","article-title":"Initial report from the hunter outcome survey","volume":"10","author":"Wraith","year":"2008","journal-title":"Genet. Med."},{"key":"2026051101370861600_ref31","first-page":"101005","article-title":"Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: an analysis from the hunter outcome survey","volume":"37","author":"Lau","year":"2023","journal-title":"Mol Genet Metab Rep"},{"key":"2026051101370861600_ref32","doi-asserted-by":"crossref","first-page":"100330","DOI":"10.1016\/j.gim.2022.10.012","article-title":"Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States","volume":"25","author":"Ream","year":"2023","journal-title":"Genet. Med."},{"key":"2026051101370861600_ref33","doi-asserted-by":"crossref","first-page":"7888","DOI":"10.3390\/ijms22157888","article-title":"Differences in MPS I and MPS II disease manifestations","volume":"22","author":"Hampe","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2026051101370861600_ref34","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease","volume":"361","author":"Sidransky","year":"2009","journal-title":"N Engl J Med"},{"key":"2026051101370861600_ref35","doi-asserted-by":"publisher","first-page":"3191","DOI":"10.1093\/brain\/awx285","article-title":"Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease","volume":"140","author":"Robak","year":"2017","journal-title":"Brain"},{"key":"2026051101370861600_ref36","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1002\/jimd.12359","article-title":"Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?","volume":"44","author":"Douglass","year":"2021","journal-title":"J Inherit Metab Dis"},{"key":"2026051101370861600_ref37","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1002\/jmd2.12059","article-title":"Clinical and neurophysiological characteristics of heterozygous NPC1 carriers","volume":"49","author":"Benussi","year":"2019","journal-title":"JIMD Rep"},{"key":"2026051101370861600_ref38","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1136\/jmg-2023-109219","article-title":"Familial Alzheimer's disease associated with heterozygous NPC1 mutation","volume":"61","author":"Lopergolo","year":"2024","journal-title":"J Med Genet"},{"key":"2026051101370861600_ref39","doi-asserted-by":"publisher","first-page":"2055","DOI":"10.1007\/s00415-019-09621-5","article-title":"Do heterozygous mutations of Niemann-pick type C predispose to late-onset neurodegeneration: a review of the literature","volume":"268","author":"Schneider","year":"2021","journal-title":"J Neurol"},{"key":"2026051101370861600_ref40","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.ibneur.2022.01.004","article-title":"Lysosomal gene Hexb displays haploinsufficiency in a knock-in mouse model of Alzheimer's disease","volume":"12","author":"Whyte","year":"2022","journal-title":"IBRO Neurosci Rep"},{"key":"2026051101370861600_ref41","doi-asserted-by":"publisher","first-page":"1417","DOI":"10.1093\/hmg\/dds558","article-title":"Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis","volume":"22","author":"Smith","year":"2013","journal-title":"Hum Mol Genet"},{"key":"2026051101370861600_ref42","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1016\/j.tcb.2017.07.006","article-title":"Emerging roles for the lysosome in lipid metabolism","volume":"27","author":"Thelen","year":"2017","journal-title":"Trends Cell Biol"},{"key":"2026051101370861600_ref43","doi-asserted-by":"crossref","first-page":"220155","DOI":"10.1098\/rsob.220155","article-title":"Lysosomal positioning diseases: beyond substrate storage","volume":"12","author":"Scerra","year":"2022","journal-title":"Open Biol"},{"key":"2026051101370861600_ref44","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1111\/tra.12587","article-title":"Mechanisms of lysosomal positioning and movement","volume":"19","author":"Cabukusta","year":"2018","journal-title":"Traffic"},{"key":"2026051101370861600_ref45","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1016\/j.ymgme.2016.05.003","article-title":"Molecular diagnosis of 65 families with mucopolysaccharidosis type II (hunter syndrome) characterized by 16 novel mutations in the IDS gene: genetic, pathological, and structural studies on iduronate-2-sulfatase","volume":"118","author":"Kosuga","year":"2016","journal-title":"Mol Genet Metab"},{"key":"2026051101370861600_ref46","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1111\/j.1399-0004.2011.01641.x","article-title":"Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II","volume":"81","author":"Sohn","year":"2012","journal-title":"Clin Genet"},{"key":"2026051101370861600_ref47","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1002\/humu.9128","article-title":"Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean hunter syndrome patients: identification of 13 novel mutations","volume":"21","author":"Kim","year":"2003","journal-title":"Hum Mutat"},{"key":"2026051101370861600_ref48","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/s44303-025-00097-9","article-title":"Pathogenic morphological signatures of perturbations in mitochondrial-related genes revealed by pooled imaging assay","volume":"3","author":"Kremitzki","year":"2025","journal-title":"Npj Imaging"},{"key":"2026051101370861600_ref49","doi-asserted-by":"crossref","first-page":"e9442","DOI":"10.15252\/msb.20209442","article-title":"High-throughput, microscope-based sorting to dissect cellular heterogeneity","volume":"16","author":"Hasle","year":"2020","journal-title":"Mol Syst Biol"},{"key":"2026051101370861600_ref50","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1016\/j.cell.2019.09.016","article-title":"Optical pooled screens in human cells","volume":"179","author":"Feldman","year":"2019","journal-title":"Cell"},{"key":"2026051101370861600_ref51","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.omtm.2017.03.006","article-title":"Engineering of Glc NAc-1-phosphotransferase for production of highly phosphorylated lysosomal enzymes for enzyme replacement therapy","volume":"5","author":"Liu","year":"2017","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2026051101370861600_ref52","doi-asserted-by":"crossref","first-page":"26875","DOI":"10.1038\/s41598-024-75300-9","article-title":"Lysosomal enzyme binding to the cation-independent mannose 6-phosphate receptor is regulated allosterically by insulin-like growth factor 2","volume":"14","author":"Bohnsack","year":"2024","journal-title":"Sci Rep"},{"key":"2026051101370861600_ref53","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1172\/JCI112262","article-title":"Trafficking of lysosomal enzymes in normal and disease states","volume":"77","author":"Kornfeld","year":"1986","journal-title":"J Clin Invest"},{"key":"2026051101370861600_ref54","doi-asserted-by":"crossref","first-page":"2585","DOI":"10.1016\/S0021-9258(18)69105-7","article-title":"The cation-independent mannose 6-phosphate receptor binds insulin-like growth factor II","volume":"263","author":"Tong","year":"1988","journal-title":"J Biol Chem"},{"key":"2026051101370861600_ref55","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/s13059-019-1671-x","article-title":"BRB-seq: ultra-affordable high-throughput transcriptomics enabled by bulk RNA barcoding and sequencing","volume":"20","author":"Alpern","year":"2019","journal-title":"Genome Biol"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/35\/5\/ddag014\/67318634\/ddag014.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/35\/5\/ddag014\/67318634\/ddag014.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T05:37:18Z","timestamp":1778477838000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/doi\/10.1093\/hmg\/ddag014\/8516645"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":55,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,2,23]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddag014","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026]]},"published":{"date-parts":[[2026]]},"article-number":"ddag014"}}