{"id":"https://openalex.org/W4410314746","doi":"https://doi.org/10.63125/e6pxkn12","title":"BIOINFORMATICS-DRIVEN APPROACHES IN PUBLIC HEALTH GENOMICS: A REVIEW OF COMPUTATIONAL SNP AND MUTATION ANALYSIS","display_name":"BIOINFORMATICS-DRIVEN APPROACHES IN PUBLIC HEALTH GENOMICS: A REVIEW OF COMPUTATIONAL SNP AND MUTATION ANALYSIS","publication_year":2025,"publication_date":"2025-03-01","ids":{"openalex":"https://openalex.org/W4410314746","doi":"https://doi.org/10.63125/e6pxkn12"},"language":"en","primary_location":{"id":"doi:10.63125/e6pxkn12","doi":"https://doi.org/10.63125/e6pxkn12","is_oa":true,"landing_page_url":"https://doi.org/10.63125/e6pxkn12","pdf_url":"https://ijsir.org/index.php/IJSIR/article/download/5/5","source":null,"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Scientific Interdisciplinary Research","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ijsir.org/index.php/IJSIR/article/download/5/5","any_repository_has_fulltext":null},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5115419488","display_name":"Mansura Akter Enni","orcid":"https://orcid.org/0009-0008-9821-4766","observed_orcids":["https://orcid.org/0009-0008-9821-4766"]},"institutions":[{"id":"https://openalex.org/I4210125938","display_name":"Jagannath University","ror":"https://ror.org/02c4z7527","country_code":"BD","type":"education","lineage":["https://openalex.org/I4210125938"]}],"countries":["BD"],"is_corresponding":true,"raw_author_name":"Mansura Akter Enni","raw_affiliation_strings":["MSc in Genetic Engineering and Biotechnology, Jagannath University, Dhaka; Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MSc in Genetic Engineering and Biotechnology, Jagannath University, Dhaka; Bangladesh","institution_ids":["https://openalex.org/I4210125938"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5143287672","display_name":"Bangladesh","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bangladesh","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5115419488"],"corresponding_institution_ids":["https://openalex.org/I4210125938"],"apc_list":null,"apc_paid":null,"fwci":12.1025,"has_fulltext":true,"cited_by_count":31,"citation_normalized_percentile":{"value":0.99310631,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":91,"max":100},"biblio":{"volume":"06","issue":"01","first_page":"88","last_page":"118"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9653000235557556,"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":0.9653000235557556,"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":0.02280000038444996,"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/T13937","display_name":"Genetics, Bioinformatics, and Biomedical Research","score":0.004999999888241291,"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/public-health-genomics","display_name":"public health genomics","score":0.9449999928474426},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9929999709129333},{"id":"https://openalex.org/keywords/mutation-analysis","display_name":"mutation analysis","score":0.8149999976158142},{"id":"https://openalex.org/keywords/variant-calling","display_name":"variant calling","score":0.781000018119812},{"id":"https://openalex.org/keywords/variant-annotation","display_name":"variant annotation","score":0.9810000061988831},{"id":"https://openalex.org/keywords/pathogenicity-prediction","display_name":"pathogenicity prediction","score":0.9490000009536743},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"genome-wide association study","score":0.9399999976158142},{"id":"https://openalex.org/keywords/polygenic-risk-score","display_name":"polygenic risk score","score":1.0},{"id":"https://openalex.org/keywords/mutation-database","display_name":"mutation database","score":0.8389999866485596},{"id":"https://openalex.org/keywords/clinvar","display_name":"ClinVar","score":0.6899999976158142},{"id":"https://openalex.org/keywords/multi-omics-integration","display_name":"multi-omics integration","score":0.9369999766349792},{"id":"https://openalex.org/keywords/regulatory-variants","display_name":"regulatory variants","score":0.8889999985694885},{"id":"https://openalex.org/keywords/non-coding-variants","display_name":"non-coding variants","score":0.843999981880188},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"precision medicine","score":0.5189999938011169},{"id":"https://openalex.org/keywords/disease-susceptibility","display_name":"disease susceptibility","score":0.593999981880188}],"concepts":[{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.6659152507781982},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.6518421769142151},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5444170236587524},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4810098111629486},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.42765605449676514},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.40302181243896484},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3457055985927582},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.30319398641586304},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.1798037886619568},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10762965679168701},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.09176576137542725}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.63125/e6pxkn12","doi":"https://doi.org/10.63125/e6pxkn12","is_oa":true,"landing_page_url":"https://doi.org/10.63125/e6pxkn12","pdf_url":"https://ijsir.org/index.php/IJSIR/article/download/5/5","source":null,"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Scientific Interdisciplinary Research","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.63125/e6pxkn12","doi":"https://doi.org/10.63125/e6pxkn12","is_oa":true,"landing_page_url":"https://doi.org/10.63125/e6pxkn12","pdf_url":"https://ijsir.org/index.php/IJSIR/article/download/5/5","source":null,"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Scientific Interdisciplinary Research","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Systematic Review","id":"https://openalex.org/study-designs/systematic-review"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4410314746.pdf","grobid_xml":"https://content.openalex.org/works/W4410314746.grobid-xml"},"referenced_works_count":116,"referenced_works":["https://openalex.org/W247880967","https://openalex.org/W1783384641","https://openalex.org/W1896660825","https://openalex.org/W1966053119","https://openalex.org/W1968587402","https://openalex.org/W1972203227","https://openalex.org/W1980785247","https://openalex.org/W1990942652","https://openalex.org/W2008180148","https://openalex.org/W2025004204","https://openalex.org/W2027541642","https://openalex.org/W2041971688","https://openalex.org/W2043532045","https://openalex.org/W2053218599","https://openalex.org/W2056716894","https://openalex.org/W2072201936","https://openalex.org/W2072509602","https://openalex.org/W2098571599","https://openalex.org/W2110417468","https://openalex.org/W2111715479","https://openalex.org/W2132901471","https://openalex.org/W2133465414","https://openalex.org/W2135639274","https://openalex.org/W2137442786","https://openalex.org/W2160697532","https://openalex.org/W2163871842","https://openalex.org/W2165889944","https://openalex.org/W2188824440","https://openalex.org/W2261054850","https://openalex.org/W2269938998","https://openalex.org/W2330998918","https://openalex.org/W2510765763","https://openalex.org/W2620579009","https://openalex.org/W2749319771","https://openalex.org/W2788176801","https://openalex.org/W2788436468","https://openalex.org/W2789662105","https://openalex.org/W2792069497","https://openalex.org/W2800406500","https://openalex.org/W2898400481","https://openalex.org/W2929354011","https://openalex.org/W2951034038","https://openalex.org/W2958854613","https://openalex.org/W2968571774","https://openalex.org/W2982208002","https://openalex.org/W3012265150","https://openalex.org/W3088262649","https://openalex.org/W3089709177","https://openalex.org/W3097960132","https://openalex.org/W3113167854","https://openalex.org/W3121951758","https://openalex.org/W3126696695","https://openalex.org/W3130912132","https://openalex.org/W3161211583","https://openalex.org/W3175669157","https://openalex.org/W3198718329","https://openalex.org/W3204348236","https://openalex.org/W4205631250","https://openalex.org/W4206719811","https://openalex.org/W4221068576","https://openalex.org/W4226342806","https://openalex.org/W4285012871","https://openalex.org/W4285750536","https://openalex.org/W4291452811","https://openalex.org/W4300777148","https://openalex.org/W4311134061","https://openalex.org/W4311587114","https://openalex.org/W4318754166","https://openalex.org/W4322617614","https://openalex.org/W4322720314","https://openalex.org/W4386849657","https://openalex.org/W4387741709","https://openalex.org/W4392717596","https://openalex.org/W4399680343","https://openalex.org/W4401464022","https://openalex.org/W4401918091","https://openalex.org/W4402596238","https://openalex.org/W4403438860","https://openalex.org/W4403790576","https://openalex.org/W4404973221","https://openalex.org/W4405483171","https://openalex.org/W4405821864","https://openalex.org/W4405951910","https://openalex.org/W4406334465","https://openalex.org/W4406403241","https://openalex.org/W4407312485","https://openalex.org/W4407602967","https://openalex.org/W4407669075","https://openalex.org/W4407709763","https://openalex.org/W4407985902","https://openalex.org/W4408083436","https://openalex.org/W4408161456","https://openalex.org/W4408416806","https://openalex.org/W4408495972","https://openalex.org/W4408647313","https://openalex.org/W4408676230","https://openalex.org/W4408676248","https://openalex.org/W4408676265","https://openalex.org/W4408676793","https://openalex.org/W4408676798","https://openalex.org/W4408693358","https://openalex.org/W4408776987","https://openalex.org/W4408777161","https://openalex.org/W4408777877","https://openalex.org/W4409143346","https://openalex.org/W4409143590","https://openalex.org/W4409405994","https://openalex.org/W4409406482","https://openalex.org/W4409406505","https://openalex.org/W4409406743","https://openalex.org/W4409406901","https://openalex.org/W4409406920","https://openalex.org/W4409601824","https://openalex.org/W4409645348","https://openalex.org/W4409849237","https://openalex.org/W6945247905"],"related_works":["https://openalex.org/W1899479364","https://openalex.org/W2169902960","https://openalex.org/W4402704741","https://openalex.org/W2156958950","https://openalex.org/W188868362","https://openalex.org/W4294681239","https://openalex.org/W7098044150","https://openalex.org/W2066891077","https://openalex.org/W1980066896","https://openalex.org/W2157684465"],"abstract_inverted_index":{"The":[0,68,194],"integration":[1,178],"of":[2,59,78,131,140,152],"bioinformatics":[3,205],"in":[4,32,81,92,165,186,226,246],"public":[5,93,239],"health":[6,94,240],"genomics":[7,245],"has":[8],"significantly":[9],"advanced":[10],"the":[11,45,57,73,99,129,137,220],"capacity":[12],"to":[13,44,71,182,243],"identify,":[14],"analyze,":[15],"and":[16,26,36,52,66,76,88,95,117,136,160,168,176,190,203,210,223,229,238,250],"interpret":[17],"genetic":[18],"variations":[19],"such":[20,156],"as":[21,157],"single":[22],"nucleotide":[23],"polymorphisms":[24],"(SNPs)":[25],"mutations,":[27],"which":[28],"play":[29],"critical":[30,233],"roles":[31],"disease":[33,247],"susceptibility,":[34],"progression,":[35],"treatment":[37],"outcomes.":[38],"This":[39,213],"systematic":[40],"review,":[41],"conducted":[42],"according":[43],"Preferred":[46],"Reporting":[47],"Items":[48],"for":[49,145,235],"Systematic":[50],"Reviews":[51],"Meta-Analyses":[53],"(PRISMA)":[54],"guidelines,":[55],"synthesizes":[56],"findings":[58,195],"89":[60],"peer-reviewed":[61],"articles":[62],"published":[63],"between":[64],"2010":[65],"2024.":[67],"review":[69,100,214],"aimed":[70],"explore":[72],"evolution,":[74],"application,":[75],"effectiveness":[77],"computational":[79],"tools":[80,106],"SNP":[82,174,228],"detection,":[83],"variant":[84,104],"annotation,":[85],"mutation":[86,154,230],"analysis,":[87,231],"their":[89,163],"translational":[90],"relevance":[91],"clinical":[96,169,211],"settings.":[97],"Specifically,":[98],"examines":[101],"widely":[102],"adopted":[103],"calling":[105],"(e.g.,":[107,113,121],"GATK,":[108],"SAMtools,":[109],"FreeBayes),":[110],"annotation":[111],"frameworks":[112],"ANNOVAR,":[114],"SnpEff,":[115],"VEP),":[116],"pathogenicity":[118],"prediction":[119],"algorithms":[120],"SIFT,":[122],"PolyPhen-2,":[123],"CADD,":[124],"REVEL).":[125],"It":[126],"also":[127],"reviews":[128],"role":[130,164],"genome-wide":[132],"association":[133],"studies":[134],"(GWAS)":[135],"increasing":[138],"use":[139],"polygenic":[141],"risk":[142,147],"scores":[143],"(PRS)":[144],"population-level":[146],"stratification.":[148],"A":[149],"focused":[150],"assessment":[151],"curated":[153],"databases":[155],"ClinVar,":[158],"HGMD,":[159],"OMIM":[161],"underscores":[162],"diagnostic":[166],"interpretation":[167],"decision":[170],"support.":[171],"Additionally,":[172],"population-specific":[173],"mapping":[175],"multi-omics":[177],"approaches":[179],"are":[180],"analyzed":[181],"highlight":[183],"emerging":[184],"practices":[185],"understanding":[187],"regulatory":[188],"variants":[189],"non-coding":[191],"genomic":[192],"elements.":[193],"indicate":[196],"a":[197,216],"robust":[198],"shift":[199],"toward":[200],"integrative,":[201],"high-throughput,":[202],"standardized":[204],"pipelines":[206],"across":[207],"both":[208],"research":[209],"domains.":[212],"provides":[215],"consolidated":[217],"perspective":[218],"on":[219],"current":[221],"landscape":[222],"methodological":[224],"trends":[225],"bioinformatics-driven":[227],"offering":[232],"insights":[234],"researchers,":[236],"clinicians,":[237],"professionals":[241],"working":[242],"leverage":[244],"prevention,":[248],"diagnosis,":[249],"precision":[251],"healthcare.":[252]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":30}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2025-05-14T00:00:00"}
