{"id":"https://openalex.org/W7225789943","doi":"https://doi.org/10.21203/rs.3.rs-11697380/v1","title":"Mapping molecular genome-editing opportunities across Mendelian disorders using ClinVar and GenCC","display_name":"Mapping molecular genome-editing opportunities across Mendelian disorders using ClinVar and GenCC","publication_year":2026,"publication_date":"2026-11-12","ids":{"openalex":"https://openalex.org/W7225789943","doi":"https://doi.org/10.21203/rs.3.rs-11697380/v1"},"language":"en","primary_location":{"id":"doi:10.21203/rs.3.rs-11697380/v1","doi":"https://doi.org/10.21203/rs.3.rs-11697380/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-11697380/v1","pdf_url":null,"source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.21203/rs.3.rs-11697380/v1","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5146582696","display_name":"Achab-Awelana Ernest","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28046988","display_name":"Kwame Nkrumah University of Science and Technology","ror":"https://ror.org/00cb23x68","country_code":"GH","type":"education","lineage":["https://openalex.org/I28046988"]}],"countries":["GH"],"is_corresponding":true,"raw_author_name":"Achab-Awelana Ernest","raw_affiliation_strings":["Kwame Nkrumah University of Science and Technology"],"raw_orcid":"https://orcid.org/0000-0001-8411-7895","affiliations":[{"raw_affiliation_string":"Kwame Nkrumah University of Science and Technology","institution_ids":["https://openalex.org/I28046988"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5146582696"],"corresponding_institution_ids":["https://openalex.org/I28046988"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10878","display_name":"CRISPR and Genetic Engineering","score":0.9496999979019165,"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":0.9496999979019165,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.04450000077486038,"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/T12610","display_name":"RNA regulation and disease","score":0.002300000051036477,"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":[],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5537999868392944},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5023999810218811},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4860999882221222},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.48570001125335693},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.45399999618530273},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.40450000762939453},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.38029998540878296},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3675999939441681},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.36149999499320984},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.3449000120162964},{"id":"https://openalex.org/C56666940","wikidata":"https://www.wikidata.org/wiki/Q788790","display_name":"Documentation","level":2,"score":0.3334999978542328},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3327000141143799},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.3278999924659729},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.32589998841285706},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.31869998574256897},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.31869998574256897},{"id":"https://openalex.org/C185798385","wikidata":"https://www.wikidata.org/wiki/Q1161707","display_name":"Benchmark (surveying)","level":2,"score":0.3122999966144562},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.30889999866485596},{"id":"https://openalex.org/C106131492","wikidata":"https://www.wikidata.org/wiki/Q3072260","display_name":"Filter (signal processing)","level":2,"score":0.2987000048160553},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.2953999936580658},{"id":"https://openalex.org/C44249647","wikidata":"https://www.wikidata.org/wiki/Q208498","display_name":"Confidence interval","level":2,"score":0.2856000065803528},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.2815000116825104},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2797999978065491},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.27630001306533813},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.27390000224113464},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.2705000042915344},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2651999890804291},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.26179999113082886}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.21203/rs.3.rs-11697380/v1","doi":"https://doi.org/10.21203/rs.3.rs-11697380/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-11697380/v1","pdf_url":null,"source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.21203/rs.3.rs-11697380/v1","doi":"https://doi.org/10.21203/rs.3.rs-11697380/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-11697380/v1","pdf_url":null,"source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W2336828812","https://openalex.org/W2766599608","https://openalex.org/W2952184158","https://openalex.org/W2981137429","https://openalex.org/W3013504322","https://openalex.org/W3041877641","https://openalex.org/W3177445623","https://openalex.org/W3206354438","https://openalex.org/W4224880055","https://openalex.org/W4229070142","https://openalex.org/W4390589383","https://openalex.org/W4392159460","https://openalex.org/W4396676517","https://openalex.org/W4400503129","https://openalex.org/W4404641556","https://openalex.org/W4410396192","https://openalex.org/W7122753967","https://openalex.org/W7162314200","https://openalex.org/W7164657616","https://openalex.org/W7223681369"],"related_works":[],"abstract_inverted_index":{"Abstract":[0],"Catalog-wide":[1],"estimates":[2],"of":[3,47,77,84,126,130,140,184,222,235,245,275],"genome-editing":[4,193,283],"correctability":[5],"may":[6],"conflate":[7],"nucleotide":[8],"chemistry,":[9],"confidence":[10,76],"in":[11],"disease":[12,68],"attribution,":[13],"target-sequence":[14],"feasibility,":[15],"and":[16,73,99,148,242,253],"therapeutic":[17],"effectiveness.":[18],"We":[19],"integrated":[20],"frozen":[21],"ClinVar":[22,39,74],"variant":[23,251],"classifications":[24,203],"with":[25,120,187,204,225],"Gene":[26],"Curation":[27],"Coalition":[28],"(GenCC)":[29],"assertions":[30],"to":[31,208,213,250],"analyze":[32],"6,968":[33,223],"high-confidence":[34],"gene\u2013disease\u2013mode-of-inheritance":[35],"relationships.":[36],"Filtering":[37],"9,345,867":[38],"source":[40],"rows":[41],"yielded":[42],"312,679":[43],"unique":[44,70],"qualifying":[45],"variants,":[46],"which":[48],"168,648":[49],"were":[50],"sequence-resolved":[51],"single-nucleotide":[52],"variants":[53],"(SNVs);":[54],"92,687":[55],"(54.96%)":[56],"exhibited":[57],"canonical":[58],"adenine/cytosine":[59],"base-editor":[60],"reaction":[61],"chemistry":[62,229],"for":[63,178,263],"hypothetical":[64],"alternate-to-reference":[65],"correction.":[66],"Exact":[67],"linkage,":[69],"relationship":[71],"assignment,":[72],"review":[75],"at":[78,167],"least":[79],"two":[80],"stars":[81],"retained":[82],"46,786":[83],"269,669":[85],"variant\u2013relationship":[86],"association":[87,131],"edges.":[88,132],"Within":[89],"the":[90,121,182,243],"stringent":[91,217],"cohort,":[92],"2,396":[93],"relationships":[94,127,224,247],"contained":[95,101],"a":[96,134,226,259],"chemistry-compatible":[97,142],"SNV":[98],"1,763":[100],"short-indel":[102,231],"evidence;":[103],"1,427":[104],"overlapped,":[105],"yielding":[106],"2,732/6,968":[107],"(39.21%)":[108],"nonredundant":[109],"molecular-class":[110],"candidates.":[111],"Variant":[112],"documentation":[113],"was":[114,248],"highly":[115],"unequal":[116],"(Gini":[117],"coefficient":[118],"0.805),":[119],"most":[122],"extensively":[123],"annotated":[124],"1%":[125],"contributing":[128],"28.18%":[129],"In":[133],"GRCh38-validated":[135],"chromosome":[136,236],"21":[137,237],"pilot,":[138],"373":[139],"1,071":[141],"SNVs":[143],"had":[144],"an":[145,149,272],"NGG":[146],"PAM":[147],"eligible":[150],"modeled":[151,157],"editing-window":[152],"position;":[153],"169":[154],"lacked":[155],"additional":[156],"same-class":[158],"bystanders.":[159],"A":[160,216],"purposive":[161],"translational":[162],"benchmark":[163],"highlighted":[164],"interventions":[165],"directed":[166],"compensatory":[168],"or":[169,190,230,281],"alternative":[170],"loci.":[171],"The":[172,197],"results":[173,257],"define":[174],"evidence-linked":[175],"molecular":[176,210],"substrates":[177],"experimental":[179],"prioritization,":[180],"not":[181,269],"fraction":[183,274],"Mendelian":[185],"disorders":[186,277],"technically":[188],"deliverable":[189],"clinically":[191],"validated":[192],"therapies.":[194],"Article":[195],"summary":[196],"analysis":[198],"integrates":[199],"public":[200],"human":[201],"genetic-variant":[202],"curated":[205],"gene\u2013disease":[206],"associations":[207],"identify":[209],"changes":[211],"relevant":[212],"genome":[214],"editing.":[215],"evidence":[218],"filter":[219],"revealed":[220],"2,732":[221],"documented":[227],"base-editing":[228],"candidate.":[232],"Sequence":[233],"screening":[234],"demonstrated":[238],"substantial":[239],"targeting":[240],"constraints,":[241],"number":[244],"candidate":[246],"sensitive":[249],"ascertainment":[252],"disease-linkage":[254],"rules.":[255],"These":[256],"provide":[258],"reproducible":[260],"starting":[261],"point":[262],"prioritizing":[264],"editing":[265],"experiments.":[266],"They":[267],"do":[268],"establish":[270],"that":[271],"equivalent":[273],"genetic":[276],"has":[278],"deliverable,":[279],"safe,":[280],"effective":[282],"therapy.":[284]},"counts_by_year":[],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2026-11-12T00:00:00"}