{"id":"https://openalex.org/W4220990769","doi":"https://doi.org/10.1109/tcbb.2022.3155659","title":"AllelePred: A Simple Allele Frequencies Ensemble Predictor for Different Single Nucleotide Variants","display_name":"AllelePred: A Simple Allele Frequencies Ensemble Predictor for Different Single Nucleotide Variants","publication_year":2022,"publication_date":"2022-03-03","ids":{"openalex":"https://openalex.org/W4220990769","doi":"https://doi.org/10.1109/tcbb.2022.3155659","pmid":"https://pubmed.ncbi.nlm.nih.gov/35239491"},"language":"en","primary_location":{"id":"doi:10.1109/tcbb.2022.3155659","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbb.2022.3155659","pdf_url":"https://ieeexplore.ieee.org/ielx7/8857/4359833/09726877.pdf","source":{"id":"https://openalex.org/S36029991","display_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","issn_l":"1545-5963","issn":["1545-5963","1557-9964","2374-0043"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://ieeexplore.ieee.org/ielx7/8857/4359833/09726877.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Turki M. Sobahy","orcid":"https://orcid.org/0000-0003-1797-3098"},"institutions":[{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]},{"id":"https://openalex.org/I4210149826","display_name":"King Fahad Hospital Jeddah","ror":"https://ror.org/04ws1n245","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I4210149826"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Turki M. Sobahy","raw_affiliation_strings":["King Faisal Specialist Hospital & Research Center-Jeddah (KFSHRC-J), Jeddah, Saudi Arabia"],"raw_orcid":"https://orcid.org/0000-0003-1797-3098","affiliations":[{"raw_affiliation_string":"King Faisal Specialist Hospital & Research Center-Jeddah (KFSHRC-J), Jeddah, Saudi Arabia","institution_ids":["https://openalex.org/I2800965796","https://openalex.org/I4210149826"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Olaa Motwalli","orcid":"https://orcid.org/0000-0002-3392-5734"},"institutions":[{"id":"https://openalex.org/I120238654","display_name":"Saudi Electronic University","ror":"https://ror.org/05ndh7v49","country_code":"SA","type":"education","lineage":["https://openalex.org/I120238654"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Olaa Motwalli","raw_affiliation_strings":["College of Computing and Informatics, Saudi Electronic University (SEU), Madinah, Saudi Arabia"],"raw_orcid":"https://orcid.org/0000-0002-3392-5734","affiliations":[{"raw_affiliation_string":"College of Computing and Informatics, Saudi Electronic University (SEU), Madinah, Saudi Arabia","institution_ids":["https://openalex.org/I120238654"]}]},{"author_position":"last","author":{"id":null,"display_name":"Meshari Alazmi","orcid":"https://orcid.org/0000-0001-9074-1029"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Meshari Alazmi","raw_affiliation_strings":["Department of Information and Computer Science, College of Computer Science and Engineering, University of Ha'il, Ha'il, Saudi Arabia"],"raw_orcid":"https://orcid.org/0000-0001-9074-1029","affiliations":[{"raw_affiliation_string":"Department of Information and Computer Science, College of Computer Science and Engineering, University of Ha'il, Ha'il, Saudi Arabia","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3729,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.65815704,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":96},"biblio":{"volume":"20","issue":"1","first_page":"796","last_page":"801"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5612000226974487,"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5612000226974487,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.18619999289512634,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.05180000141263008,"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/simple","display_name":"Simple (philosophy)","score":0.48750001192092896},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"Allele frequency","score":0.37770000100135803},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.37049999833106995},{"id":"https://openalex.org/keywords/allele","display_name":"Allele","score":0.3677000105381012},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.3513000011444092},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"Genetic variants","score":0.3483999967575073},{"id":"https://openalex.org/keywords/pattern-recognition","display_name":"Pattern recognition (psychology)","score":0.30979999899864197}],"concepts":[{"id":"https://openalex.org/C2780586882","wikidata":"https://www.wikidata.org/wiki/Q7520643","display_name":"Simple (philosophy)","level":2,"score":0.48750001192092896},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4668999910354614},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4307999908924103},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4147000014781952},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.38519999384880066},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3790000081062317},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.37770000100135803},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.37049999833106995},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3677000105381012},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3513000011444092},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.3483999967575073},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.30979999899864197},{"id":"https://openalex.org/C45942800","wikidata":"https://www.wikidata.org/wiki/Q245652","display_name":"Ensemble learning","level":2,"score":0.3052000105381012},{"id":"https://openalex.org/C8880873","wikidata":"https://www.wikidata.org/wiki/Q187787","display_name":"Genetic algorithm","level":2,"score":0.2879999876022339},{"id":"https://openalex.org/C99498987","wikidata":"https://www.wikidata.org/wiki/Q2210247","display_name":"Noise (video)","level":3,"score":0.27959999442100525},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.2775999903678894},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.26969999074935913},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.2587999999523163},{"id":"https://openalex.org/C2780009758","wikidata":"https://www.wikidata.org/wiki/Q6804172","display_name":"Measure (data warehouse)","level":2,"score":0.2565999925136566},{"id":"https://openalex.org/C2993807623","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genetic data","level":3,"score":0.2556999921798706},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.25099998712539673}],"mesh":[{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009711","descriptor_name":"Nucleotides","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009711","descriptor_name":"Nucleotides","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009711","descriptor_name":"Nucleotides","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1109/tcbb.2022.3155659","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbb.2022.3155659","pdf_url":"https://ieeexplore.ieee.org/ielx7/8857/4359833/09726877.pdf","source":{"id":"https://openalex.org/S36029991","display_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","issn_l":"1545-5963","issn":["1545-5963","1557-9964","2374-0043"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},{"id":"pmid:35239491","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35239491","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE/ACM transactions on computational biology and bioinformatics","raw_type":null},{"id":"pmh:oai:repository.kaust.edu.sa:10754/676458","is_oa":false,"landing_page_url":"http://hdl.handle.net/10754/676458","pdf_url":null,"source":{"id":"https://openalex.org/S4306401596","display_name":"King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I71920554","host_organization_name":"King Abdullah University of Science and Technology","host_organization_lineage":["https://openalex.org/I71920554"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1109/tcbb.2022.3155659","is_oa":true,"landing_page_url":"https://doi.org/10.1109/tcbb.2022.3155659","pdf_url":"https://ieeexplore.ieee.org/ielx7/8857/4359833/09726877.pdf","source":{"id":"https://openalex.org/S36029991","display_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","issn_l":"1545-5963","issn":["1545-5963","1557-9964","2374-0043"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE/ACM Transactions on Computational Biology and Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4220990769.pdf","grobid_xml":"https://content.openalex.org/works/W4220990769.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1791584368","https://openalex.org/W1964547306","https://openalex.org/W1991241396","https://openalex.org/W1996202672","https://openalex.org/W1998002365","https://openalex.org/W2024405748","https://openalex.org/W2033288453","https://openalex.org/W2036439084","https://openalex.org/W2051391520","https://openalex.org/W2051978340","https://openalex.org/W2055830789","https://openalex.org/W2056574347","https://openalex.org/W2111714845","https://openalex.org/W2143238378","https://openalex.org/W2148105023","https://openalex.org/W2160995259","https://openalex.org/W2168533552","https://openalex.org/W2225726427","https://openalex.org/W2342587579","https://openalex.org/W2397613836","https://openalex.org/W2414833252","https://openalex.org/W2526413677","https://openalex.org/W2535426958","https://openalex.org/W2566723262","https://openalex.org/W2601522016","https://openalex.org/W2751686252","https://openalex.org/W2874996660","https://openalex.org/W2891643925","https://openalex.org/W2902028677","https://openalex.org/W2905840501","https://openalex.org/W2926201203","https://openalex.org/W2949886398","https://openalex.org/W2951354947","https://openalex.org/W2952013316","https://openalex.org/W2955065634","https://openalex.org/W2972605721","https://openalex.org/W3002047202","https://openalex.org/W3011636774","https://openalex.org/W4386941397"],"related_works":[],"abstract_inverted_index":{"BACKGROUND":[0],"&":[1],"OBJECTIVE:":[2],"Genomic":[3],"medicine":[4],"stands":[5],"to":[6,47,69,77],"be":[7],"revolutionized":[8],"by":[9],"understanding":[10],"single":[11],"nucleotide":[12],"variants":[13,153],"(SNVs)":[14],"and":[15,36,51,63,84,97,125,143,154,176],"their":[16,37],"expression":[17],"in":[18,30,172,180],"single-gene":[19],"disorders":[20],"(Mendelian":[21],"diseases).":[22],"Computational":[23],"tools":[24],"can":[25],"play":[26],"a":[27,113,147],"vital":[28],"role":[29],"the":[31,42,137,177],"exploration":[32],"of":[33,103,129,139,149],"such":[34,80],"variations":[35],"pathogenicity.":[38],"Consequently,":[39],"we":[40],"developed":[41],"ensemble":[43,165],"prediction":[44,166],"tool":[45,167],"AllelePred":[46,168],"identify":[48],"deleterious":[49,152,174],"SNVs":[50,175],"disease":[52],"causative":[53],"genes.":[54],"RESULTS:":[55],"The":[56,106,164],"model":[57],"utilizes":[58],"different":[59,101],"population":[60],"genetics":[61],"backgrounds":[62],"restricted":[64],"criteria":[65],"for":[66,100],"features":[67],"selection":[68],"help":[70],"generate":[71],"high":[72],"accuracy":[73,90,171],"results.":[74],"In":[75],"comparison":[76],"other":[78],"tools,":[79],"as":[81],"Eigen,":[82],"PROVEAN,":[83],"fathmm-MKL":[85],"our":[86],"classifier":[87],"achieves":[88],"higher":[89],"(98%),":[91],"precision":[92],"(96%),":[93],"F1":[94],"score":[95],"(93%),":[96],"coverage":[98],"(100%)":[99],"types":[102],"coding":[104],"variants.":[105],"new":[107],"method":[108],"was":[109],"also":[110],"compared":[111],"against":[112],"bioinformatics":[114],"analytical":[115],"workflow,":[116],"which":[117],"uses":[118],"gnomAD":[119],"overall":[120],"AFs":[121],"(less":[122],"than":[123],"1%)":[124],"CADD":[126],"(scaled":[127],"C-score":[128],"at":[130],"least":[131],"15).":[132],"Furthermore,":[133],"this":[134],"research":[135],"highlights":[136],"stature":[138],"genetic":[140,178],"variant":[141],"sharing":[142],"curation.":[144],"We":[145],"accumulated":[146],"list":[148],"highly":[150],"probable":[151],"recommended":[155],"further":[156],"experimental":[157],"validation":[158],"before":[159],"medical":[160],"diagnostic":[161],"usage.":[162],"CONCLUSIONS:":[163],"enables":[169],"increased":[170],"recognizing":[173],"determinants":[179],"real":[181],"clinical":[182],"data.":[183]},"counts_by_year":[{"year":2025,"cited_by_count":2}],"updated_date":"2026-06-11T09:08:48.828518","created_date":"2022-04-03T00:00:00"}