{"id":"https://openalex.org/W4413373976","doi":"https://doi.org/10.1021/acs.jcim.5c01258","title":"Prediction of Human Pathogenic Start Loss Variants Based on Multi-channel Features","display_name":"Prediction of Human Pathogenic Start Loss Variants Based on Multi-channel Features","publication_year":2025,"publication_date":"2025-08-21","ids":{"openalex":"https://openalex.org/W4413373976","doi":"https://doi.org/10.1021/acs.jcim.5c01258","pmid":"https://pubmed.ncbi.nlm.nih.gov/40838429"},"language":"en","primary_location":{"id":"doi:10.1021/acs.jcim.5c01258","is_oa":false,"landing_page_url":"https://doi.org/10.1021/acs.jcim.5c01258","pdf_url":null,"source":{"id":"https://openalex.org/S167262187","display_name":"Journal of Chemical Information and Modeling","issn_l":"1549-9596","issn":["1549-9596","1549-960X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320006","host_organization_name":"American Chemical Society","host_organization_lineage":["https://openalex.org/P4310320006"],"host_organization_lineage_names":["American Chemical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Chemical Information and Modeling","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","pubmed"],"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/A5100454080","display_name":"Jie Liu","orcid":"https://orcid.org/0000-0002-2083-0883"},"institutions":[{"id":"https://openalex.org/I115592961","display_name":"Jiangsu University","ror":"https://ror.org/03jc41j30","country_code":"CN","type":"education","lineage":["https://openalex.org/I115592961"]},{"id":"https://openalex.org/I143868143","display_name":"Anhui University","ror":"https://ror.org/05th6yx34","country_code":"CN","type":"education","lineage":["https://openalex.org/I143868143"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jie Liu","raw_affiliation_strings":["Anhui University","Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology","Jiangsu Ocean University","School of Computer Engineering","Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, China","School of Computer Engineering, Jiangsu Ocean University, Lianyungang, Jiangsu 222005, China"],"affiliations":[{"raw_affiliation_string":"Anhui University","institution_ids":["https://openalex.org/I143868143"]},{"raw_affiliation_string":"Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology","institution_ids":[]},{"raw_affiliation_string":"Jiangsu Ocean University","institution_ids":[]},{"raw_affiliation_string":"School of Computer Engineering","institution_ids":[]},{"raw_affiliation_string":"Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, China","institution_ids":["https://openalex.org/I143868143"]},{"raw_affiliation_string":"School of Computer Engineering, Jiangsu Ocean University, Lianyungang, Jiangsu 222005, China","institution_ids":["https://openalex.org/I115592961"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102757613","display_name":"Lihua Wang","orcid":"https://orcid.org/0000-0002-7867-8298"},"institutions":[{"id":"https://openalex.org/I143868143","display_name":"Anhui University","ror":"https://ror.org/05th6yx34","country_code":"CN","type":"education","lineage":["https://openalex.org/I143868143"]},{"id":"https://openalex.org/I3132008074","display_name":"Huangshan University","ror":"https://ror.org/05akhmy90","country_code":"CN","type":"education","lineage":["https://openalex.org/I3132008074"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lihua Wang","raw_affiliation_strings":["Anhui University","Huangshan University","Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology","School of Information Engineering","Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, China","School of Information Engineering, Huangshan University, Huangshan, Anhui 245041, China"],"affiliations":[{"raw_affiliation_string":"Anhui University","institution_ids":["https://openalex.org/I143868143"]},{"raw_affiliation_string":"Huangshan University","institution_ids":["https://openalex.org/I3132008074"]},{"raw_affiliation_string":"Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology","institution_ids":[]},{"raw_affiliation_string":"School of Information Engineering","institution_ids":[]},{"raw_affiliation_string":"Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, China","institution_ids":["https://openalex.org/I143868143"]},{"raw_affiliation_string":"School of Information Engineering, Huangshan University, Huangshan, Anhui 245041, China","institution_ids":["https://openalex.org/I3132008074"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071754273","display_name":"Yansen Su","orcid":"https://orcid.org/0000-0002-3855-7133"},"institutions":[{"id":"https://openalex.org/I143868143","display_name":"Anhui University","ror":"https://ror.org/05th6yx34","country_code":"CN","type":"education","lineage":["https://openalex.org/I143868143"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yansen Su","raw_affiliation_strings":["Anhui University","School of Artificial Intelligence","School of Artificial Intelligence, Anhui University, Hefei, Anhui 230601, China"],"affiliations":[{"raw_affiliation_string":"Anhui University","institution_ids":["https://openalex.org/I143868143"]},{"raw_affiliation_string":"School of Artificial Intelligence","institution_ids":[]},{"raw_affiliation_string":"School of Artificial Intelligence, Anhui University, Hefei, Anhui 230601, China","institution_ids":["https://openalex.org/I143868143"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100658814","display_name":"Bin Ye","orcid":"https://orcid.org/0000-0002-5359-4389"},"institutions":[{"id":"https://openalex.org/I143868143","display_name":"Anhui University","ror":"https://ror.org/05th6yx34","country_code":"CN","type":"education","lineage":["https://openalex.org/I143868143"]},{"id":"https://openalex.org/I4390039265","display_name":"PRG S&Tech (South Korea)","ror":"https://ror.org/02sr2ee22","country_code":null,"type":"company","lineage":["https://openalex.org/I4390039265"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Bin Ye","raw_affiliation_strings":["Anhui University","Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology","School of Computer Science and Technology","Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, China","School of Computer Science and Technology, Anhui University, Hefei, Anhui 230601, China"],"affiliations":[{"raw_affiliation_string":"Anhui University","institution_ids":["https://openalex.org/I143868143"]},{"raw_affiliation_string":"Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology","institution_ids":[]},{"raw_affiliation_string":"School of Computer Science and Technology","institution_ids":["https://openalex.org/I4390039265"]},{"raw_affiliation_string":"Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, China","institution_ids":["https://openalex.org/I143868143"]},{"raw_affiliation_string":"School of Computer Science and Technology, Anhui University, Hefei, Anhui 230601, China","institution_ids":["https://openalex.org/I143868143"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065943710","display_name":"Junfeng Xia","orcid":"https://orcid.org/0000-0003-3024-1705"},"institutions":[{"id":"https://openalex.org/I143868143","display_name":"Anhui University","ror":"https://ror.org/05th6yx34","country_code":"CN","type":"education","lineage":["https://openalex.org/I143868143"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Junfeng Xia","raw_affiliation_strings":["Anhui University","Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology","Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, China"],"affiliations":[{"raw_affiliation_string":"Anhui University","institution_ids":["https://openalex.org/I143868143"]},{"raw_affiliation_string":"Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology","institution_ids":[]},{"raw_affiliation_string":"Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei, Anhui 230601, China","institution_ids":["https://openalex.org/I143868143"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5065943710","https://openalex.org/A5100658814"],"corresponding_institution_ids":["https://openalex.org/I143868143","https://openalex.org/I4390039265"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.19212002,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"65","issue":"17","first_page":"9330","last_page":"9341"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12254","display_name":"Machine Learning in Bioinformatics","score":0.9994999766349792,"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/T12254","display_name":"Machine Learning in Bioinformatics","score":0.9994999766349792,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.992900013923645,"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":0.9890000224113464,"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/computational-biology","display_name":"Computational biology","score":0.3908504247665405},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.38889768719673157},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.25003963708877563}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3908504247665405},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.38889768719673157},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25003963708877563}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018387","descriptor_name":"Codon, Initiator","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018387","descriptor_name":"Codon, Initiator","qualifier_ui":"Q000235","qualifier_name":"genetics","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}],"locations_count":2,"locations":[{"id":"doi:10.1021/acs.jcim.5c01258","is_oa":false,"landing_page_url":"https://doi.org/10.1021/acs.jcim.5c01258","pdf_url":null,"source":{"id":"https://openalex.org/S167262187","display_name":"Journal of Chemical Information and Modeling","issn_l":"1549-9596","issn":["1549-9596","1549-960X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320006","host_organization_name":"American Chemical Society","host_organization_lineage":["https://openalex.org/P4310320006"],"host_organization_lineage_names":["American Chemical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Chemical Information and Modeling","raw_type":"journal-article"},{"id":"pmid:40838429","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40838429","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":"Journal of chemical information and modeling","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G2245046682","display_name":null,"funder_award_id":"U22A2038","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":56,"referenced_works":["https://openalex.org/W1970413157","https://openalex.org/W2006778392","https://openalex.org/W2011582941","https://openalex.org/W2018189081","https://openalex.org/W2024405748","https://openalex.org/W2024751967","https://openalex.org/W2077831789","https://openalex.org/W2082425146","https://openalex.org/W2083653639","https://openalex.org/W2101634181","https://openalex.org/W2110495164","https://openalex.org/W2114029728","https://openalex.org/W2129952088","https://openalex.org/W2136388422","https://openalex.org/W2148105023","https://openalex.org/W2154128645","https://openalex.org/W2170747616","https://openalex.org/W2225726427","https://openalex.org/W2336509392","https://openalex.org/W2592883665","https://openalex.org/W2751686252","https://openalex.org/W2762801938","https://openalex.org/W2768144926","https://openalex.org/W2786672974","https://openalex.org/W2805782192","https://openalex.org/W2883972171","https://openalex.org/W2891029504","https://openalex.org/W2904681419","https://openalex.org/W2952728907","https://openalex.org/W2963477629","https://openalex.org/W2990435446","https://openalex.org/W2993084408","https://openalex.org/W3001241789","https://openalex.org/W3005230331","https://openalex.org/W3009811541","https://openalex.org/W3037601773","https://openalex.org/W3080696152","https://openalex.org/W3107322429","https://openalex.org/W3137777421","https://openalex.org/W3145954853","https://openalex.org/W4220831425","https://openalex.org/W4221090435","https://openalex.org/W4283724573","https://openalex.org/W4292794678","https://openalex.org/W4311088269","https://openalex.org/W4318981550","https://openalex.org/W4378640002","https://openalex.org/W4378976943","https://openalex.org/W4383506054","https://openalex.org/W4386162235","https://openalex.org/W4386861232","https://openalex.org/W4387576685","https://openalex.org/W4389367121","https://openalex.org/W4390616142","https://openalex.org/W4393925021","https://openalex.org/W4401615295"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W2390279801","https://openalex.org/W4391913857","https://openalex.org/W2358668433","https://openalex.org/W4396701345","https://openalex.org/W2376932109","https://openalex.org/W2001405890","https://openalex.org/W4396696052"],"abstract_inverted_index":{"Start":[0],"loss":[1,94,118,136,164,195],"variants":[2,72,146,165,196],"occur":[3],"at":[4,141,204],"the":[5,11,19,35,54,113,132,143,174,190,198],"start":[6,93,117,135,163,194],"codon":[7],"that":[8,73,124,150,161],"can":[9],"disrupt":[10],"normal":[12],"translation":[13],"initiation":[14],"process,":[15],"potentially":[16],"resulting":[17],"in":[18,34,130,148,197],"production":[20],"of":[21,38,53,56,112,116,134,145,176,193],"abnormal":[22],"protein":[23],"isoforms.":[24],"Although":[25],"numerous":[26],"computational":[27],"methods":[28,58,129],"have":[29,74,151],"been":[30,76,153],"developed":[31],"to":[32,70,90,107,178],"aid":[33],"large-scale":[36],"interpretation":[37],"genetic":[39],"variants,":[40],"they":[41],"often":[42],"show":[43,123],"limited":[44],"predictive":[45],"accuracy":[46],"for":[47,187],"start-loss":[48],"variants.":[49,95,119,137],"A":[50],"significant":[51],"limitation":[52],"majority":[55],"these":[57],"is":[59,202],"their":[60,68],"dependence":[61],"on":[62],"manually":[63],"curated":[64],"features,":[65],"which":[66],"restricts":[67],"ability":[69],"predict":[71],"not":[75,152],"studied":[77],"and":[78,104],"characterized.":[79],"Here,":[80],"we":[81],"introduce":[82],"StartPred,":[83],"a":[84,109,185],"novel":[85],"prediction":[86],"method":[87],"specifically":[88],"designed":[89],"identify":[91,179],"pathogenic":[92],"It":[96,138],"effectively":[97],"integrated":[98],"multichannel":[99],"features":[100],"from":[101],"both":[102],"reference":[103],"mutated":[105],"sequences":[106],"facilitate":[108],"thorough":[110],"characterization":[111],"functional":[114,191],"implications":[115],"Our":[120],"experimental":[121],"results":[122,159],"StartPred":[125,177,201],"outperforms":[126],"13":[127],"other":[128],"predicting":[131],"pathogenicity":[133,144],"also":[139],"excels":[140],"identifying":[142],"occurring":[147],"genes":[149],"extensively":[154],"studied.":[155],"In":[156],"addition,":[157],"our":[158],"indicate":[160],"certain":[162],"may":[166],"be":[167],"closely":[168],"associated":[169],"with":[170],"neurodegenerative":[171],"diseases,":[172],"highlighting":[173],"potential":[175],"risk":[180],"loci.":[181],"This":[182],"work":[183],"lays":[184],"foundation":[186],"accurately":[188],"deciphering":[189],"impact":[192],"human":[199],"genome.":[200],"available":[203],"https://github.com/xialab-ahu/StartPred.":[205]},"counts_by_year":[],"updated_date":"2026-03-27T14:29:43.386196","created_date":"2025-10-10T00:00:00"}