{"id":"https://openalex.org/W4297678788","doi":"https://doi.org/10.1145/3549737.3549747","title":"Modeling the off-target effects of CRISPR-Cas9 experiments for the treatment of Duchenne Muscular Dystrophy","display_name":"Modeling the off-target effects of CRISPR-Cas9 experiments for the treatment of Duchenne Muscular Dystrophy","publication_year":2022,"publication_date":"2022-09-07","ids":{"openalex":"https://openalex.org/W4297678788","doi":"https://doi.org/10.1145/3549737.3549747"},"language":"en","primary_location":{"id":"doi:10.1145/3549737.3549747","is_oa":false,"landing_page_url":"https://doi.org/10.1145/3549737.3549747","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the 12th Hellenic Conference on Artificial Intelligence","raw_type":"proceedings-article"},"type":"article","indexed_in":["crossref"],"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/A5065535372","display_name":"Eleni Koutsoni","orcid":null},"institutions":[{"id":"https://openalex.org/I203474044","display_name":"National Centre of Scientific Research \"Demokritos\"","ror":"https://ror.org/038jp4m40","country_code":"GR","type":"facility","lineage":["https://openalex.org/I203474044"]},{"id":"https://openalex.org/I145722265","display_name":"University of Thessaly","ror":"https://ror.org/04v4g9h31","country_code":"GR","type":"education","lineage":["https://openalex.org/I145722265"]}],"countries":["GR"],"is_corresponding":true,"raw_author_name":"Eleni Koutsoni","raw_affiliation_strings":["University of Thessaly, Greece and NCSR Demokritos, Greece"],"affiliations":[{"raw_affiliation_string":"University of Thessaly, Greece and NCSR Demokritos, Greece","institution_ids":["https://openalex.org/I145722265","https://openalex.org/I203474044"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048605038","display_name":"Vasileios Konstantakos","orcid":"https://orcid.org/0000-0002-0332-7506"},"institutions":[{"id":"https://openalex.org/I203474044","display_name":"National Centre of Scientific Research \"Demokritos\"","ror":"https://ror.org/038jp4m40","country_code":"GR","type":"facility","lineage":["https://openalex.org/I203474044"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Vasileios Konstantakos","raw_affiliation_strings":["NCSR Demokritos, Greece"],"affiliations":[{"raw_affiliation_string":"NCSR Demokritos, Greece","institution_ids":["https://openalex.org/I203474044"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009767506","display_name":"Anastasios Nentidis","orcid":"https://orcid.org/0000-0002-3782-4412"},"institutions":[{"id":"https://openalex.org/I21370196","display_name":"Aristotle University of Thessaloniki","ror":"https://ror.org/02j61yw88","country_code":"GR","type":"education","lineage":["https://openalex.org/I21370196"]},{"id":"https://openalex.org/I203474044","display_name":"National Centre of Scientific Research \"Demokritos\"","ror":"https://ror.org/038jp4m40","country_code":"GR","type":"facility","lineage":["https://openalex.org/I203474044"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Anastasios Nentidis","raw_affiliation_strings":["NCSR Demokritos, Greece and Aristotle University of Thessaloniki, Greece"],"affiliations":[{"raw_affiliation_string":"NCSR Demokritos, Greece and Aristotle University of Thessaloniki, Greece","institution_ids":["https://openalex.org/I21370196","https://openalex.org/I203474044"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058877446","display_name":"Anastasia Krithara","orcid":"https://orcid.org/0000-0003-0491-4507"},"institutions":[{"id":"https://openalex.org/I203474044","display_name":"National Centre of Scientific Research \"Demokritos\"","ror":"https://ror.org/038jp4m40","country_code":"GR","type":"facility","lineage":["https://openalex.org/I203474044"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Anastasia Krithara","raw_affiliation_strings":["NCSR Demokritos, Greece"],"affiliations":[{"raw_affiliation_string":"NCSR Demokritos, Greece","institution_ids":["https://openalex.org/I203474044"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010395244","display_name":"\u0393\u03b5\u03ce\u03c1\u03b3\u03b9\u03bf\u03c2 \u03a0\u03b1\u03bb\u03b9\u03bf\u03cd\u03c1\u03b1\u03c2","orcid":"https://orcid.org/0000-0001-9629-2367"},"institutions":[{"id":"https://openalex.org/I203474044","display_name":"National Centre of Scientific Research \"Demokritos\"","ror":"https://ror.org/038jp4m40","country_code":"GR","type":"facility","lineage":["https://openalex.org/I203474044"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Georgios Paliouras","raw_affiliation_strings":["NCSR Demokritos, Greece"],"affiliations":[{"raw_affiliation_string":"NCSR Demokritos, Greece","institution_ids":["https://openalex.org/I203474044"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5065535372"],"corresponding_institution_ids":["https://openalex.org/I145722265","https://openalex.org/I203474044"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.09879501,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":null,"issue":null,"first_page":"1","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10878","display_name":"CRISPR and Genetic Engineering","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T10878","display_name":"CRISPR and Genetic Engineering","score":1.0,"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"}},{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9801999926567078,"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"}},{"id":"https://openalex.org/T10207","display_name":"Advanced biosensing and bioanalysis techniques","score":0.9642000198364258,"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/crispr","display_name":"CRISPR","score":0.8339061141014099},{"id":"https://openalex.org/keywords/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.8007686734199524},{"id":"https://openalex.org/keywords/genome-editing","display_name":"Genome editing","score":0.6071280241012573},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5966486930847168},{"id":"https://openalex.org/keywords/cas9","display_name":"Cas9","score":0.5106077790260315},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.46454381942749023},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.46181002259254456},{"id":"https://openalex.org/keywords/dystrophin","display_name":"Dystrophin","score":0.4185834228992462},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.40941035747528076},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.35223549604415894},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.2101353108882904},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.20811119675636292},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.15024465322494507}],"concepts":[{"id":"https://openalex.org/C98108389","wikidata":"https://www.wikidata.org/wiki/Q412563","display_name":"CRISPR","level":3,"score":0.8339061141014099},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.8007686734199524},{"id":"https://openalex.org/C144501496","wikidata":"https://www.wikidata.org/wiki/Q5533489","display_name":"Genome editing","level":4,"score":0.6071280241012573},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5966486930847168},{"id":"https://openalex.org/C132455925","wikidata":"https://www.wikidata.org/wiki/Q16965677","display_name":"Cas9","level":4,"score":0.5106077790260315},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.46454381942749023},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.46181002259254456},{"id":"https://openalex.org/C2780394045","wikidata":"https://www.wikidata.org/wiki/Q412285","display_name":"Dystrophin","level":3,"score":0.4185834228992462},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.40941035747528076},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.35223549604415894},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2101353108882904},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20811119675636292},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.15024465322494507}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1145/3549737.3549747","is_oa":false,"landing_page_url":"https://doi.org/10.1145/3549737.3549747","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the 12th Hellenic Conference on Artificial Intelligence","raw_type":"proceedings-article"},{"id":"pmh:oai:ir.lib.uth.gr:11615/75425","is_oa":false,"landing_page_url":"http://hdl.handle.net/11615/75425","pdf_url":null,"source":{"id":"https://openalex.org/S4306400243","display_name":"University of Thessaly Institutional Repository (University of Thessaly)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I145722265","host_organization_name":"University of Thessaly","host_organization_lineage":["https://openalex.org/I145722265"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ACM International Conference Proceeding Series","raw_type":"conferenceItem"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.5199999809265137,"display_name":"Good health and well-being"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W1926939363","https://openalex.org/W1977709885","https://openalex.org/W1988753748","https://openalex.org/W2003797386","https://openalex.org/W2014639769","https://openalex.org/W2036176224","https://openalex.org/W2053009004","https://openalex.org/W2121066313","https://openalex.org/W2129171086","https://openalex.org/W2135995702","https://openalex.org/W2188223075","https://openalex.org/W2196662084","https://openalex.org/W2208696160","https://openalex.org/W2224398381","https://openalex.org/W2252568502","https://openalex.org/W2260024370","https://openalex.org/W2461013690","https://openalex.org/W2551672460","https://openalex.org/W2587525963","https://openalex.org/W2606041961","https://openalex.org/W2765610460","https://openalex.org/W2782551527","https://openalex.org/W2794267795","https://openalex.org/W2803479625","https://openalex.org/W2914658811","https://openalex.org/W2949080752","https://openalex.org/W2973300930","https://openalex.org/W2997591727","https://openalex.org/W4205247356","https://openalex.org/W4210696891"],"related_works":["https://openalex.org/W2603161682","https://openalex.org/W2960163646","https://openalex.org/W2807464733","https://openalex.org/W2516842346","https://openalex.org/W2134268326","https://openalex.org/W2903635918","https://openalex.org/W2437118042","https://openalex.org/W2337751047","https://openalex.org/W3052741125","https://openalex.org/W2466284841"],"abstract_inverted_index":{"Duchenne":[0],"Muscular":[1],"Dystrophy":[2],"(DMD)":[3],"is":[4,41,76,105,110,226],"a":[5,164,178,201,209],"neuromuscular":[6],"disorder":[7],"caused":[8],"by":[9,66,84],"the":[10,13,24,33,55,64,85,88,93,111,121,138,156,172,183,188,191,197,212,229,233],"absence":[11],"of":[12,26,120,150,211,220,232],"dystrophin":[14,72],"protein.":[15],"If":[16],"left":[17],"untreated,":[18],"it":[19,75],"causes":[20],"movement":[21],"problems":[22],"at":[23],"age":[25],"10-12":[27],"years,":[28],"and":[29,70,132,182,186,208],"death":[30],"occurs":[31],"in":[32,114,147],"20-30":[34],"years":[35],"due":[36],"to":[37,62,136],"heart":[38],"failure.":[39],"There":[40],"currently":[42],"no":[43],"cure":[44],"for":[45,155,205],"this":[46,206],"disease,":[47],"only":[48],"symptomatic":[49],"treatment.":[50],"Genome":[51],"editing":[52,153],"approaches":[53,135],"like":[54],"CRISPR-Cas9":[56,151],"technology":[57],"can":[58,81,99],"provide":[59],"new":[60],"opportunities":[61],"ameliorate":[63],"disease":[65],"eliminating":[67],"DMD":[68,157],"mutations":[69],"restoring":[71],"expression.":[73],"While":[74],"true":[77],"that":[78,96,170],"on-target":[79],"activity":[80],"be":[82],"influenced":[83],"guide":[86,115,180],"specificity,":[87],"proposed":[89],"approach":[90,146],"focuses":[91],"on":[92,177],"devastating":[94],"results":[95,189,213],"off-target":[97,108,140,185],"cleavage":[98],"cause":[100],"(e.g.,":[101],"unexpected":[102],"mutations).":[103],"This":[104,142],"why":[106],"reducing":[107],"effects":[109],"first":[112],"priority":[113],"design.":[116],"The":[117,218],"rapid":[118],"growth":[119],"Artificial":[122],"Intelligence":[123],"field":[124],"has":[125],"helped":[126],"researchers":[127],"employ":[128],"artificial":[129],"feature":[130],"extraction":[131],"Machine":[133,160],"Learning":[134],"evaluate":[137,187],"potential":[139],"scores.":[141],"work":[143],"presents":[144],"our":[145,221],"evaluating":[148],"off-targets":[149],"gene":[152],"specifically":[154],"disorder,":[158],"using":[159,190],"Learning.":[161],"We":[162,195],"offer":[163],"comparison":[165,210],"between":[166],"four":[167],"regression":[168],"methods":[169],"predict":[171],"insertions-deletions":[173],"(indels)":[174],"produced":[175],"based":[176],"pair":[179],"RNA":[181],"equivalent":[184],"Spearman":[192],"correlation":[193],"metric.":[194],"propose":[196],"most":[198],"suitable":[199],"method,":[200],"Decision":[202],"Tree":[203],"Regressor,":[204],"problem":[207],"with":[214,223],"some":[215],"state-of-art":[216],"tools.":[217],"performance":[219,231],"tool":[222],"Cross":[224],"Validation":[225],"better":[227],"than":[228],"independent":[230],"other":[234],"tools":[235],"except":[236],"from":[237],"Elevation":[238],"which":[239],"performed":[240],"about":[241],"as":[242,244],"good":[243],"ours.":[245]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-03-20T23:20:44.827607","created_date":"2022-09-30T00:00:00"}
