{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T20:59:53Z","timestamp":1792011593994,"version":"4.4.0"},"reference-count":66,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Therapy - Nucleic Acids"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.omtn.2023.02.032","type":"journal-article","created":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T02:17:38Z","timestamp":1677809858000},"page":"64-79","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"special_numbering":"C","title":["Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients"],"prefix":"10.1016","volume":"32","author":[{"given":"Laura","family":"Siles","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Ruiz-Nogales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnau","family":"Navin\u00e9s-Ferrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"M\u00e9ndez-Vendrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3818-3303","authenticated-orcid":false,"given":"Esther","family":"Pomares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.omtn.2023.02.032_bib1","doi-asserted-by":"crossref","first-page":"101389","DOI":"10.1016\/j.scr.2019.101389","article-title":"Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations","volume":"36","author":"Riera","year":"2019","journal-title":"Stem Cell Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1076\/opge.24.2.75.13996","article-title":"The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review","volume":"24","author":"Koenekoop","year":"2003","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib3","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/978-3-319-95046-4_27","article-title":"Stargardt disease","author":"Tsang","year":"2018","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.omtn.2023.02.032_bib4","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1111\/aos.14996","article-title":"Stargardt disease: monitoring incidence and diagnostic trends in The Netherlands using a nationwide disease registry","volume":"100","author":"Runhart","year":"2022","journal-title":"Acta Ophthalmol."},{"key":"10.1016\/j.omtn.2023.02.032_bib5","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng0397-236","article-title":"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy","volume":"15","author":"Allikmets","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib6","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1124\/jpet.103.059972","article-title":"Structures and models of transporter proteins","volume":"309","author":"Dahl","year":"2004","journal-title":"J.\u00a0Pharmacol. Exp. Ther."},{"key":"10.1016\/j.omtn.2023.02.032_bib7","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1093\/hmg\/7.3.355","article-title":"Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt\u2019s disease gene ABCR","volume":"7","author":"Cremers","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib8","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1007\/s00439-020-02199-3","article-title":"The Human Gene Mutation Database (HGMD(\u00ae)): optimizing its use in a clinical diagnostic or research setting","volume":"139","author":"Stenson","year":"2020","journal-title":"Hum. Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/13816810.2021.1966053","article-title":"Stargardt disease and progress in therapeutic strategies","volume":"43","author":"Huang","year":"2022","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib10","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.ajhg.2018.02.008","article-title":"Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying stargardt disease","volume":"102","author":"Albert","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib11","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.3390\/biom11081179","article-title":"Therapy approaches for stargardt disease","volume":"11","author":"Piotter","year":"2021","journal-title":"Biomolecules"},{"key":"10.1016\/j.omtn.2023.02.032_bib12","doi-asserted-by":"crossref","first-page":"100861","DOI":"10.1016\/j.preteyeres.2020.100861","article-title":"Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations","volume":"79","author":"Cremers","year":"2020","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib13","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1007\/s00417-017-3619-8","article-title":"Novel therapeutics for Stargardt disease","volume":"255","author":"Lu","year":"2017","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.omtn.2023.02.032_bib14","article-title":"Dual AAV vectors for stargardt disease","volume":"1715","author":"Trapani","year":"2018"},{"key":"10.1016\/j.omtn.2023.02.032_bib15","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.omtm.2021.10.004","article-title":"Inclusion of a degron reduces levelsof undesired inteins after AAV-mediated proteintrans-splicing in the retina","volume":"23","author":"Tornabene","year":"2021","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.omtn.2023.02.032_bib16","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.ymthe.2019.09.010","article-title":"Non-viral gene therapy for stargardt disease with ECO\/pRHO-ABCA4 self-assembled Nanoparticles","volume":"28","author":"Sun","year":"2020","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtn.2023.02.032_bib17","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1080\/13816810.2021.1904421","article-title":"CRISPR Cas9 based genome editing in inherited retinal dystrophies","volume":"42","author":"Bansal","year":"2021","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib18","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.tibtech.2013.04.004","article-title":"ZFN, TALEN, and CRISPR\/Cas-based methods for genome engineering","volume":"31","author":"Gaj","year":"2013","journal-title":"Trends Biotechnol."},{"key":"10.1016\/j.omtn.2023.02.032_bib19","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1038\/s41551-021-00760-7","article-title":"CRISPR-based diagnostics","volume":"5","author":"Kaminski","year":"2021","journal-title":"Nat. Biomed. Eng."},{"key":"10.1016\/j.omtn.2023.02.032_bib20","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.cell.2015.12.041","article-title":"The heroes of CRISPR","volume":"164","author":"Lander","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.omtn.2023.02.032_bib21","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nbt.2842","article-title":"CRISPR-Cas systems for editing, regulating and targeting genomes","volume":"32","author":"Sander","year":"2014","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.omtn.2023.02.032_bib22","doi-asserted-by":"crossref","first-page":"eadd8643","DOI":"10.1126\/science.add8643","article-title":"CRISPR technology: a decade of genome editing is only the beginning","volume":"379","author":"Wang","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.omtn.2023.02.032_bib23","doi-asserted-by":"crossref","first-page":"12133","DOI":"10.1007\/s11033-022-07880-6","article-title":"CRISPR\/Cas9 system: a reliable and facile genome editing tool in modern biology","volume":"49","author":"Javaid","year":"2022","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.omtn.2023.02.032_bib24","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1007\/s12640-022-00564-w","article-title":"CRISPR and iPSCs: recent developments and future perspectives in neurodegenerative disease modelling, research, and therapeutics","volume":"40","author":"Sen","year":"2022","journal-title":"Neurotox. Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib25","doi-asserted-by":"crossref","first-page":"2154","DOI":"10.1038\/nprot.2016.129","article-title":"Modeling and correction of structural variations in patient-derived iPSCs using CRISPR\/Cas9","volume":"11","author":"Park","year":"2016","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.omtn.2023.02.032_bib26","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1002\/humu.9236","article-title":"Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa","volume":"23","author":"Ozg\u00fcl","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.omtn.2023.02.032_bib27","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1086\/302251","article-title":"Genotype\/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease","volume":"64","author":"Lewis","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib28","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.10263","article-title":"Genotyping microarray (gene chip) for the ABCR (ABCA4) gene","volume":"22","author":"Jaakson","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.omtn.2023.02.032_bib29","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1016\/j.ajo.2013.01.018","article-title":"A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations","volume":"155","author":"Fujinami","year":"2013","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.omtn.2023.02.032_bib30","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1038\/s41598-018-19441-8","article-title":"A survey of validation strategies for CRISPR-cas9 editing","volume":"8","author":"Sentmanat","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.omtn.2023.02.032_bib31","doi-asserted-by":"crossref","first-page":"4811","DOI":"10.1038\/s41598-019-41121-4","article-title":"Highly efficient genome editing for single-base substitutions using optimized ssODNs with Cas9-RNPs","volume":"9","author":"Okamoto","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.omtn.2023.02.032_bib32","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1038\/nbt.3481","article-title":"Enhancing homology-directed genome editing by catalytically active and inactive CRISPR-Cas9 using asymmetric donor DNA","volume":"34","author":"Richardson","year":"2016","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.omtn.2023.02.032_bib33","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.omtn.2017.08.003","article-title":"USH2A gene editing using the CRISPR system","volume":"8","author":"Fuster-Garc\u00eda","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.omtn.2023.02.032_bib34","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1016\/j.stemcr.2022.02.008","article-title":"Homozygous might be hemizygous: CRISPR\/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls","volume":"17","author":"Simkin","year":"2022","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.omtn.2023.02.032_bib35","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1038\/gt.2008.78","article-title":"Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy","volume":"15","author":"Kong","year":"2008","journal-title":"Gene Ther."},{"key":"10.1016\/j.omtn.2023.02.032_bib36","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.omtm.2019.11.016","article-title":"Genome editing in patient iPSCs corrects the most prevalent USH2A mutations and reveals intriguing mutant mRNA expression profiles","volume":"17","author":"Sanjurjo-Soriano","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.omtn.2023.02.032_bib37","doi-asserted-by":"crossref","first-page":"371","DOI":"10.34172\/bi.2022.23871","article-title":"Advance trends in targeting homology-directed repair for accurate gene editing: an inclusive review of small molecules and modified CRISPR-Cas9 systems","volume":"12","author":"Shams","year":"2022","journal-title":"Bioimpacts"},{"key":"10.1016\/j.omtn.2023.02.032_bib38","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.stem.2015.07.001","article-title":"Functional correction of large factor VIII gene chromosomal inversions in hemophilia A patient-derived iPSCs using CRISPR-cas9","volume":"17","author":"Park","year":"2015","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.omtn.2023.02.032_bib39","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.celrep.2015.08.084","article-title":"Reversion of FMR1 methylation and silencing by editing the triplet repeats in fragile X iPSC-derived neurons","volume":"13","author":"Park","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.omtn.2023.02.032_bib40","doi-asserted-by":"crossref","first-page":"3651","DOI":"10.1038\/s41467-018-06129-w","article-title":"Highly efficient genome editing by CRISPR-Cpf1 using CRISPR RNA with a uridinylate-rich 3\u2032-overhang","volume":"9","author":"Bin Moon","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.omtn.2023.02.032_bib41","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s41434-020-00197-8","article-title":"Gene therapy and gene correction: targets, progress, and challenges for treating human diseases","volume":"29","author":"Cring","year":"2022","journal-title":"Gene Ther."},{"key":"10.1016\/j.omtn.2023.02.032_bib42","doi-asserted-by":"crossref","first-page":"100827","DOI":"10.1016\/j.preteyeres.2019.100827","article-title":"Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives","volume":"77","author":"Garafalo","year":"2020","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib43","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s11095-018-2554-7","article-title":"Pharmaceutical development of AAV-based gene therapy products for the eye","volume":"36","author":"Rodrigues","year":"2018","journal-title":"Pharm. Res. (N. Y.)"},{"key":"10.1016\/j.omtn.2023.02.032_bib44","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/s41588-021-00881-4","article-title":"CRISPR\u2013Cas9 can cause chromothripsis","volume":"53","author":"Urnov","year":"2021","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtn.2023.02.032_bib45","article-title":"The application and progression of CRISPR\/Cas9 technology in ophthalmological diseases","author":"Hu","year":"2022","journal-title":"Eye"},{"key":"10.1016\/j.omtn.2023.02.032_bib46","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.tibtech.2020.10.010","article-title":"Next-generation CRISPR technologies and their applications in gene and cell therapy","volume":"39","author":"Zeballos C","year":"2021","journal-title":"Trends Biotechnol."},{"key":"10.1016\/j.omtn.2023.02.032_bib47","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1016\/j.omtm.2021.02.006","article-title":"Cell therapy with hiPSC-derived RPE cells and RPCs prevents visual function loss in a rat model of retinal degeneration","volume":"20","author":"Salas","year":"2021","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.omtn.2023.02.032_bib48","doi-asserted-by":"crossref","first-page":"7887","DOI":"10.1007\/s11033-022-07621-9","article-title":"Development of an efficient single-cell cloning and expansion strategy for genome edited induced pluripotent stem cells","volume":"49","author":"Bhargava","year":"2022","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.omtn.2023.02.032_bib49","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.omtn.2022.07.023","article-title":"Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR\/SpCas9 approaches","volume":"29","author":"De Angeli","year":"2022","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.omtn.2023.02.032_bib50","doi-asserted-by":"crossref","first-page":"eaax1210","DOI":"10.1126\/sciadv.aax1210","article-title":"CRISPR-Cas9\u2013mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis","volume":"5","author":"Jo","year":"2019","journal-title":"Sci. Adv."},{"key":"10.1016\/j.omtn.2023.02.032_bib51","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1002\/stem.2858","article-title":"Modeling of aniridia-related keratopathy by CRISPR\/Cas9 genome editing of human limbal epithelial cells and rescue by recombinant PAX6 protein","volume":"36","author":"Roux","year":"2018","journal-title":"Stem Cell."},{"key":"10.1016\/j.omtn.2023.02.032_bib52","doi-asserted-by":"crossref","first-page":"6240","DOI":"10.3390\/ijms21176240","article-title":"Crispr-cas9 dna base-editing and prime-editing","volume":"21","author":"Kantor","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.omtn.2023.02.032_bib53","doi-asserted-by":"crossref","first-page":"e0124633","DOI":"10.1371\/journal.pone.0124633","article-title":"CCTop: an intuitive, flexible and reliable CRISPR\/Cas9 target prediction tool","volume":"10","author":"Stemmer","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.omtn.2023.02.032_bib54","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1093\/nar\/gkv575","article-title":"Cas9-chromatin binding information enables more accurate CRISPR off-target prediction","volume":"43","author":"Singh","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib55","doi-asserted-by":"crossref","first-page":"W401","DOI":"10.1093\/nar\/gku410","article-title":"CHOPCHOP: a CRISPR\/Cas9 and TALEN web tool for genome editing","volume":"42","author":"Montague","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib56","doi-asserted-by":"crossref","first-page":"4724","DOI":"10.1038\/s41467-022-32233-z","article-title":"Ultra-deep sequencing validates safety of CRISPR\/Cas9 genome editing in human hematopoietic stem and progenitor cells","volume":"13","author":"Cromer","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.omtn.2023.02.032_bib57","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1186\/s12864-022-08365-3","article-title":"Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery","volume":"23","author":"Barbitoff","year":"2022","journal-title":"BMC Genom."},{"key":"10.1016\/j.omtn.2023.02.032_bib58","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.preteyeres.2015.01.003","article-title":"Cellular strategies for retinal repair by photoreceptor replacement","volume":"46","author":"Jayakody","year":"2015","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib59","doi-asserted-by":"crossref","first-page":"108961","DOI":"10.1016\/j.exer.2022.108961","article-title":"RPE based gene and cell therapy for inherited retinal diseases: a review","volume":"217","author":"Sanie-Jahromi","year":"2022","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib60","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.omtn.2023.02.032_bib61","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1093\/bioinformatics\/btu048","article-title":"Cas-OFFinder: a fast and versatile algorithm that searches for potential off-target sites of Cas9 RNA-guided endonucleases","volume":"30","author":"Bae","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.omtn.2023.02.032_bib62","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.omtn.2023.02.032_bib63","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.omtn.2023.02.032_bib64","doi-asserted-by":"crossref","first-page":"e1004873","DOI":"10.1371\/journal.pcbi.1004873","article-title":"CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing","volume":"12","author":"Talevich","year":"2016","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.omtn.2023.02.032_bib65","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","article-title":"Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications","volume":"32","author":"Chen","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.omtn.2023.02.032_bib66","doi-asserted-by":"crossref","first-page":"3572","DOI":"10.1093\/bioinformatics\/bty304","article-title":"An integrated tool for structural variations annotation","volume":"34","author":"Geoffroy","year":"2018","journal-title":"Bioinformatics"}],"container-title":["Molecular Therapy - Nucleic Acids"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2162253123000525?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2162253123000525?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T16:12:51Z","timestamp":1730736771000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2162253123000525"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":66,"alternative-id":["S2162253123000525"],"URL":"https:\/\/doi.org\/10.1016\/j.omtn.2023.02.032","relation":{},"ISSN":["2162-2531"],"issn-type":[{"value":"2162-2531","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients","name":"articletitle","label":"Article Title"},{"value":"Molecular Therapy - Nucleic Acids","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.omtn.2023.02.032","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors.","name":"copyright","label":"Copyright"}]}}