{"id":"https://openalex.org/W3046432405","doi":"https://doi.org/10.1186/s12859-020-03695-z","title":"MutEnricher: a flexible toolset for somatic mutation enrichment analysis of tumor whole genomes","display_name":"MutEnricher: a flexible toolset for somatic mutation enrichment analysis of tumor whole genomes","publication_year":2020,"publication_date":"2020-07-31","ids":{"openalex":"https://openalex.org/W3046432405","doi":"https://doi.org/10.1186/s12859-020-03695-z","mag":"3046432405","pmid":"https://pubmed.ncbi.nlm.nih.gov/32736515"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-020-03695-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-020-03695-z","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-020-03695-z","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-020-03695-z","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066829487","display_name":"Anthony R. Soltis","orcid":"https://orcid.org/0000-0002-3394-1275"},"institutions":[{"id":"https://openalex.org/I1280259254","display_name":"Henry M. Jackson Foundation","ror":"https://ror.org/04q9tew83","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1280259254"]},{"id":"https://openalex.org/I148314036","display_name":"Uniformed Services University of the Health Sciences","ror":"https://ror.org/04r3kq386","country_code":"US","type":"education","lineage":["https://openalex.org/I148314036"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Anthony R. Soltis","raw_affiliation_strings":["Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA. anthony.soltis.ctr@usuhs.edu","The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. anthony.soltis.ctr@usuhs.edu","The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA. anthony.soltis.ctr@usuhs.edu","institution_ids":["https://openalex.org/I1280259254"]},{"raw_affiliation_string":"The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. anthony.soltis.ctr@usuhs.edu","institution_ids":["https://openalex.org/I148314036"]},{"raw_affiliation_string":"The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA","institution_ids":["https://openalex.org/I148314036"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007936453","display_name":"Clifton L. Dalgard","orcid":"https://orcid.org/0000-0003-2025-8239"},"institutions":[{"id":"https://openalex.org/I148314036","display_name":"Uniformed Services University of the Health Sciences","ror":"https://ror.org/04r3kq386","country_code":"US","type":"education","lineage":["https://openalex.org/I148314036"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Clifton L. Dalgard","raw_affiliation_strings":["Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA","The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA","institution_ids":["https://openalex.org/I148314036"]},{"raw_affiliation_string":"The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA","institution_ids":["https://openalex.org/I148314036"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003537359","display_name":"Harvey B. Pollard","orcid":"https://orcid.org/0000-0001-5357-935X"},"institutions":[{"id":"https://openalex.org/I148314036","display_name":"Uniformed Services University of the Health Sciences","ror":"https://ror.org/04r3kq386","country_code":"US","type":"education","lineage":["https://openalex.org/I148314036"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Harvey B. Pollard","raw_affiliation_strings":["Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA","The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA","institution_ids":["https://openalex.org/I148314036"]},{"raw_affiliation_string":"The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA","institution_ids":["https://openalex.org/I148314036"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5047751537","display_name":"Matthew D. Wilkerson","orcid":"https://orcid.org/0000-0003-2727-0230"},"institutions":[{"id":"https://openalex.org/I1280259254","display_name":"Henry M. Jackson Foundation","ror":"https://ror.org/04q9tew83","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1280259254"]},{"id":"https://openalex.org/I148314036","display_name":"Uniformed Services University of the Health Sciences","ror":"https://ror.org/04r3kq386","country_code":"US","type":"education","lineage":["https://openalex.org/I148314036"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew D. Wilkerson","raw_affiliation_strings":["Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. matthew.wilkerson.ctr@usuhs.edu","Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA. matthew.wilkerson.ctr@usuhs.edu","The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. matthew.wilkerson.ctr@usuhs.edu","The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA"],"raw_orcid":"https://orcid.org/0000-0003-2727-0230","affiliations":[{"raw_affiliation_string":"Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. matthew.wilkerson.ctr@usuhs.edu","institution_ids":["https://openalex.org/I148314036"]},{"raw_affiliation_string":"Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA. matthew.wilkerson.ctr@usuhs.edu","institution_ids":["https://openalex.org/I1280259254"]},{"raw_affiliation_string":"The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. matthew.wilkerson.ctr@usuhs.edu","institution_ids":["https://openalex.org/I148314036"]},{"raw_affiliation_string":"The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA","institution_ids":["https://openalex.org/I148314036"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5066829487"],"corresponding_institution_ids":["https://openalex.org/I1280259254","https://openalex.org/I148314036"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":0.9635,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.71444476,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":98},"biblio":{"volume":"21","issue":"1","first_page":"338","last_page":"338"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9675999879837036,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9675999879837036,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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":0.0071000000461936,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.00430000014603138,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5706530809402466},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5477921962738037},{"id":"https://openalex.org/keywords/somatic-cell","display_name":"Somatic cell","score":0.5451752543449402},{"id":"https://openalex.org/keywords/germline-mutation","display_name":"Germline mutation","score":0.5415648818016052},{"id":"https://openalex.org/keywords/mutation-rate","display_name":"Mutation rate","score":0.4538813531398773},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.451568603515625},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.4469246566295624},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.44576844573020935},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.4399501383304596},{"id":"https://openalex.org/keywords/python","display_name":"Python (programming language)","score":0.41538533568382263},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.3978159427642822},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.36022084951400757},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.28516334295272827},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.08367007970809937}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5706530809402466},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5477921962738037},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.5451752543449402},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5415648818016052},{"id":"https://openalex.org/C98638677","wikidata":"https://www.wikidata.org/wiki/Q2067051","display_name":"Mutation rate","level":3,"score":0.4538813531398773},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.451568603515625},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4469246566295624},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.44576844573020935},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4399501383304596},{"id":"https://openalex.org/C519991488","wikidata":"https://www.wikidata.org/wiki/Q28865","display_name":"Python (programming language)","level":2,"score":0.41538533568382263},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3978159427642822},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.36022084951400757},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28516334295272827},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.08367007970809937}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","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":"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":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1186/s12859-020-03695-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-020-03695-z","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-020-03695-z","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:32736515","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32736515","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:doaj.org/article:dd9dc439a95449e18165dbc54dc7b8af","is_oa":true,"landing_page_url":"https://doaj.org/article/dd9dc439a95449e18165dbc54dc7b8af","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, Vol 21, Iss 1, Pp 1-8 (2020)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7393734","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7393734","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1186/s12859-020-03695-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-020-03695-z","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-020-03695-z","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G6519784111","display_name":null,"funder_award_id":"IAA-A-HL-007.001","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3046432405.pdf","grobid_xml":"https://content.openalex.org/works/W3046432405.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W1984068087","https://openalex.org/W1995837988","https://openalex.org/W2009720434","https://openalex.org/W2030209169","https://openalex.org/W2060043441","https://openalex.org/W2110065044","https://openalex.org/W2114031931","https://openalex.org/W2152061559","https://openalex.org/W2165232124","https://openalex.org/W2270152626","https://openalex.org/W2344657883","https://openalex.org/W2436745791","https://openalex.org/W2557187647","https://openalex.org/W2573077199","https://openalex.org/W2724571272","https://openalex.org/W2767680469","https://openalex.org/W2796408191"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W1983406990","https://openalex.org/W2094815267","https://openalex.org/W2484239316","https://openalex.org/W3024198590","https://openalex.org/W4367844067","https://openalex.org/W2106924416"],"abstract_inverted_index":{"BACKGROUND:":[0],"Analysis":[1],"of":[2,12,20,49,56,68],"somatic":[3,51,80,123,136],"mutations":[4],"from":[5,90],"tumor":[6],"whole":[7],"exomes":[8],"has":[9],"fueled":[10],"discovery":[11],"novel":[13],"cancer":[14],"driver":[15],"genes.":[16],"However,":[17],"~":[18],"98%":[19],"the":[21,43],"genome":[22,39],"is":[23,129,140,144,152,160],"non-coding":[24,50,87],"and":[25,53,86,108,119,151],"includes":[26],"regulatory":[27],"elements":[28],"whose":[29],"normal":[30],"cellular":[31],"functions":[32],"can":[33,147],"be":[34,148],"disrupted":[35],"by":[36],"mutation.":[37],"Whole":[38],"sequencing":[40],"(WGS),":[41],"on":[42],"other":[44],"hand,":[45],"allows":[46],"for":[47,65,78,98,105,134],"identification":[48],"variation":[52],"expanded":[54],"estimation":[55],"background":[57,110],"mutation":[58,81,111,124,137],"rates,":[59],"yet":[60],"fewer":[61],"computational":[62],"tools":[63],"exist":[64],"specific":[66,157],"interrogation":[67],"this":[69],"space.":[70],"RESULTS:":[71],"We":[72],"present":[73],"MutEnricher,":[74],"a":[75,130],"flexible":[76,131],"toolset":[77],"investigating":[79,135],"enrichment":[82,125,138],"in":[83,142],"both":[84,114],"coding":[85],"genomic":[88],"regions":[89],"WGS":[91],"data.":[92],"MutEnricher":[93,115,128,159],"contains":[94],"two":[95],"distinct":[96],"modules":[97,116],"these":[99],"purposes":[100],"that":[101,139],"provide":[102],"customizable":[103],"options":[104],"calculating":[106],"sample-":[107],"feature-specific":[109],"rates.":[112],"Additionally,":[113],"calculate":[117],"feature-level":[118],"local,":[120],"or":[121],"\"hotspot,\"":[122],"statistics.":[126],"CONCLUSIONS:":[127],"software":[132],"package":[133],"implemented":[141],"Python,":[143],"freely":[145],"available,":[146],"efficiently":[149],"parallelized,":[150],"highly":[153],"configurable":[154],"to":[155],"researcher's":[156],"needs.":[158],"available":[161],"online":[162],"at":[163],"https://github.com/asoltis/MutEnricher":[164],".":[165]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-10-10T00:00:00"}
