{"id":"https://openalex.org/W1802891247","doi":"https://doi.org/10.1093/bib/bbv057","title":"Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data","display_name":"Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data","publication_year":2015,"publication_date":"2015-08-05","ids":{"openalex":"https://openalex.org/W1802891247","doi":"https://doi.org/10.1093/bib/bbv057","mag":"1802891247","pmid":"https://pubmed.ncbi.nlm.nih.gov/26249222"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbv057","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbv057","pdf_url":"https://academic.oup.com/bib/article-pdf/17/2/224/25416700/bbv057.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bib/article-pdf/17/2/224/25416700/bbv057.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100406334","display_name":"Pan Zhang","orcid":"https://orcid.org/0000-0001-8279-4008"},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]},{"id":"https://openalex.org/I4210098931","display_name":"Quantitative BioSciences","ror":"https://ror.org/010brsj79","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210098931"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Pan Zhang","raw_affiliation_strings":["Pan Zhang is a postdoc fellow at Center for Quantitative Science, Vanderbilt University","Vanderbilt University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pan Zhang is a postdoc fellow at Center for Quantitative Science, Vanderbilt University","institution_ids":["https://openalex.org/I4210098931"]},{"raw_affiliation_string":"Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009870321","display_name":"David C. Samuels","orcid":"https://orcid.org/0000-0003-3529-7791"},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David C. Samuels","raw_affiliation_strings":["David Samuel is an associate professor at Department of Molecular Physiology & Biophysics, Vanderbilt University","Vanderbilt University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"David Samuel is an associate professor at Department of Molecular Physiology & Biophysics, Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072853514","display_name":"Brian D. Lehmann","orcid":"https://orcid.org/0000-0003-0407-5248"},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]},{"id":"https://openalex.org/I4210162197","display_name":"Vanderbilt Health","ror":"https://ror.org/05grhsk96","country_code":"US","type":"company","lineage":["https://openalex.org/I4210162197"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brian Lehmann","raw_affiliation_strings":["Brian Lehmann is a Research Assistant Professor of Biochemistry at the Vanderbilt School of Medicine","Vanderbilt University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Brian Lehmann is a Research Assistant Professor of Biochemistry at the Vanderbilt School of Medicine","institution_ids":["https://openalex.org/I4210162197"]},{"raw_affiliation_string":"Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071523883","display_name":"Thomas Stricker","orcid":"https://orcid.org/0000-0002-3602-9994"},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]},{"id":"https://openalex.org/I88874673","display_name":"Thomas University","ror":"https://ror.org/01p18bt48","country_code":"US","type":"education","lineage":["https://openalex.org/I88874673"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas Stricker","raw_affiliation_strings":["Thomas Stricker is a Assistant Professor of Pathology, Microbiology and Immunology, Vanderbilt University. He is the Director of Center for Advanced Laboratory Diagnostics","Vanderbilt University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Thomas Stricker is a Assistant Professor of Pathology, Microbiology and Immunology, Vanderbilt University. He is the Director of Center for Advanced Laboratory Diagnostics","institution_ids":["https://openalex.org/I88874673"]},{"raw_affiliation_string":"Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032756469","display_name":"Jennifer A. Pietenpol","orcid":"https://orcid.org/0000-0001-6268-6798"},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer Pietenpol","raw_affiliation_strings":["Jennifer Pietenpol is a Benjamin F. Byrd, Jr. Professor of Oncology and a Professor of Biochemistry, Cancer Biology and Otolaryngology, Vanderbilt University. She is the Director of Vanderbilt-Ingram Cancer Center","Vanderbilt University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jennifer Pietenpol is a Benjamin F. Byrd, Jr. Professor of Oncology and a Professor of Biochemistry, Cancer Biology and Otolaryngology, Vanderbilt University. She is the Director of Vanderbilt-Ingram Cancer Center","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062656698","display_name":"Yu Shyr","orcid":"https://orcid.org/0000-0003-2086-9670"},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]},{"id":"https://openalex.org/I24879904","display_name":"Preston University","ror":"https://ror.org/02pepyh86","country_code":"US","type":"education","lineage":["https://openalex.org/I24879904"]},{"id":"https://openalex.org/I4210098931","display_name":"Quantitative BioSciences","ror":"https://ror.org/010brsj79","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210098931"]},{"id":"https://openalex.org/I4210118410","display_name":"Institut th\u00e9matique G\u00e9n\u00e9tique, g\u00e9nomique et bioinformatique","ror":"https://ror.org/01rfstj90","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210118410"]},{"id":"https://openalex.org/I4210143684","display_name":"Advanced Cell Diagnostics (United States)","ror":"https://ror.org/0555q8a52","country_code":"US","type":"company","lineage":["https://openalex.org/I4210143684"]}],"countries":["FR","US"],"is_corresponding":false,"raw_author_name":"Yu Shyr","raw_affiliation_strings":["Yu Shyr is a Professor at Department of Biostatistics, Biomedical Informatics, Cancer Biology, and Health Policy, Vanderbilt University. He is the Director of Vanderbilt Center for Quantitative Sciences and Vanderbilt Technologies for Advanced Genomics Analysis and Research Design","Vanderbilt School of Medicine","Center for Quantitative Science, Vanderbilt University","Professor of Biochemistry, Cancer Biology and Otolaryngology, Vanderbilt University. She is the Director of Vanderbilt-Ingram Cancer Center","Department of Molecular Physiology & Biophysics, Vanderbilt University","2220 Pierce Avenue, 494 Preston Research Building, Nashville TN 37232, USA","Pathology, Microbiology and Immunology, Vanderbilt University. He is the Director of Center for Advanced Laboratory Diagnostics","Department of Cancer Biology, Vanderbilt University","Department of Biostatistics, Biomedical Informatics, Cancer Biology, and Health Policy, Vanderbilt University. He is the Director of Vanderbilt Center for Quantitative Sciences and Vanderbilt Technologies for Advanced Genomics Analysis and Research Design","Director of Bioinformatics for Vanderbilt Technologies for Advanced Genomics Analysis and Research Design","2220 Pierce Avenue, 571 Preston Research Building, Nashville TN 37232, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yu Shyr is a Professor at Department of Biostatistics, Biomedical Informatics, Cancer Biology, and Health Policy, Vanderbilt University. He is the Director of Vanderbilt Center for Quantitative Sciences and Vanderbilt Technologies for Advanced Genomics Analysis and Research Design","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Vanderbilt School of Medicine","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Center for Quantitative Science, Vanderbilt University","institution_ids":["https://openalex.org/I4210098931"]},{"raw_affiliation_string":"Professor of Biochemistry, Cancer Biology and Otolaryngology, Vanderbilt University. She is the Director of Vanderbilt-Ingram Cancer Center","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Molecular Physiology & Biophysics, Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"2220 Pierce Avenue, 494 Preston Research Building, Nashville TN 37232, USA","institution_ids":["https://openalex.org/I24879904"]},{"raw_affiliation_string":"Pathology, Microbiology and Immunology, Vanderbilt University. He is the Director of Center for Advanced Laboratory Diagnostics","institution_ids":["https://openalex.org/I4210143684"]},{"raw_affiliation_string":"Department of Cancer Biology, Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Biostatistics, Biomedical Informatics, Cancer Biology, and Health Policy, Vanderbilt University. He is the Director of Vanderbilt Center for Quantitative Sciences and Vanderbilt Technologies for Advanced Genomics Analysis and Research Design","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Director of Bioinformatics for Vanderbilt Technologies for Advanced Genomics Analysis and Research Design","institution_ids":["https://openalex.org/I4210118410"]},{"raw_affiliation_string":"2220 Pierce Avenue, 571 Preston Research Building, Nashville TN 37232, USA","institution_ids":["https://openalex.org/I24879904"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5056796466","display_name":"Yan Guo","orcid":"https://orcid.org/0000-0001-5252-3960"},"institutions":[{"id":"https://openalex.org/I196764719","display_name":"Breast Cancer Research Foundation","ror":"https://ror.org/0348ff195","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I196764719"]},{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yan Guo","raw_affiliation_strings":["Yan Guo is an assistant professor at Department of Cancer Biology, Vanderbilt University. He is the Technical Director of Bioinformatics for Vanderbilt Technologies for Advanced Genomics Analysis and Research Design","Vanderbilt University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yan Guo is an assistant professor at Department of Cancer Biology, Vanderbilt University. He is the Technical Director of Bioinformatics for Vanderbilt Technologies for Advanced Genomics Analysis and Research Design","institution_ids":["https://openalex.org/I196764719"]},{"raw_affiliation_string":"Vanderbilt University","institution_ids":["https://openalex.org/I200719446"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":null,"fwci":1.9214,"has_fulltext":true,"cited_by_count":35,"citation_normalized_percentile":{"value":0.85543048,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":98},"biblio":{"volume":"17","issue":"2","first_page":"224","last_page":"232"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9998000264167786,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9998000264167786,"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/T10836","display_name":"Metabolomics and Mass Spectrometry Studies","score":0.9987000226974487,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9973999857902527,"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/heteroplasmy","display_name":"Heteroplasmy","score":0.9623823165893555},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.8170718550682068},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.6942653656005859},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6681951284408569},{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"Mitochondrial DNA","score":0.640576958656311},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5806097984313965},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5773782730102539},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.5718684196472168},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.48827195167541504},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.4636330306529999},{"id":"https://openalex.org/keywords/cancer-genome-sequencing","display_name":"Cancer genome sequencing","score":0.43475329875946045},{"id":"https://openalex.org/keywords/deep-sequencing","display_name":"Deep sequencing","score":0.4316139221191406},{"id":"https://openalex.org/keywords/human-mitochondrial-genetics","display_name":"Human mitochondrial genetics","score":0.41440096497535706},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.275948703289032},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.17004317045211792}],"concepts":[{"id":"https://openalex.org/C181561989","wikidata":"https://www.wikidata.org/wiki/Q2581905","display_name":"Heteroplasmy","level":4,"score":0.9623823165893555},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.8170718550682068},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6942653656005859},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6681951284408569},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.640576958656311},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5806097984313965},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5773782730102539},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5718684196472168},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.48827195167541504},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4636330306529999},{"id":"https://openalex.org/C205270622","wikidata":"https://www.wikidata.org/wiki/Q17082639","display_name":"Cancer genome sequencing","level":5,"score":0.43475329875946045},{"id":"https://openalex.org/C132917006","wikidata":"https://www.wikidata.org/wiki/Q5250436","display_name":"Deep sequencing","level":4,"score":0.4316139221191406},{"id":"https://openalex.org/C151994961","wikidata":"https://www.wikidata.org/wiki/Q715263","display_name":"Human mitochondrial genetics","level":4,"score":0.41440096497535706},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.275948703289032},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.17004317045211792}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009360","descriptor_name":"Neoplastic Cells, Circulating","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009360","descriptor_name":"Neoplastic Cells, Circulating","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009360","descriptor_name":"Neoplastic Cells, Circulating","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009360","descriptor_name":"Neoplastic Cells, Circulating","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009360","descriptor_name":"Neoplastic Cells, Circulating","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009360","descriptor_name":"Neoplastic Cells, Circulating","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012334","descriptor_name":"RNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012334","descriptor_name":"RNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012334","descriptor_name":"RNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012334","descriptor_name":"RNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012334","descriptor_name":"RNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012334","descriptor_name":"RNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","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},{"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},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bib/bbv057","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbv057","pdf_url":"https://academic.oup.com/bib/article-pdf/17/2/224/25416700/bbv057.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:26249222","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26249222","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":"Briefings in bioinformatics","raw_type":null},{"id":"pmh:oai:europepmc.org:4938839","is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5974936","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:open-archive.highwire.org:bib:17/2/224","is_oa":false,"landing_page_url":"http://bib.oxfordjournals.org/cgi/content/short/17/2/224","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"}],"best_oa_location":{"id":"doi:10.1093/bib/bbv057","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbv057","pdf_url":"https://academic.oup.com/bib/article-pdf/17/2/224/25416700/bbv057.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5400000214576721,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"awards":[{"id":"https://openalex.org/G3433274139","display_name":null,"funder_award_id":"P30 CA68485","funder_id":"https://openalex.org/F4320309151","funder_display_name":"Vanderbilt University"},{"id":"https://openalex.org/G3739218554","display_name":null,"funder_award_id":"CA95131","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G4149577727","display_name":null,"funder_award_id":"RC2CA148375","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G5853943267","display_name":null,"funder_award_id":"CA68485","funder_id":"https://openalex.org/F4320309151","funder_display_name":"Vanderbilt University"},{"id":"https://openalex.org/G5929078166","display_name":null,"funder_award_id":"RC2 CA148375","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G8495578203","display_name":null,"funder_award_id":"P30 CA68485","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320309151","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34"},{"id":"https://openalex.org/F4320309599","display_name":"Vanderbilt Institute for Clinical and Translational Research","ror":"https://ror.org/02vm5rt34"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1802891247.pdf","grobid_xml":"https://content.openalex.org/works/W1802891247.grobid-xml"},"referenced_works_count":46,"referenced_works":["https://openalex.org/W76055556","https://openalex.org/W108245682","https://openalex.org/W1538214352","https://openalex.org/W1546375972","https://openalex.org/W1573889570","https://openalex.org/W1897607929","https://openalex.org/W1972218534","https://openalex.org/W1974746346","https://openalex.org/W1986241711","https://openalex.org/W1998352164","https://openalex.org/W2003055993","https://openalex.org/W2003496581","https://openalex.org/W2005520835","https://openalex.org/W2006921756","https://openalex.org/W2015710217","https://openalex.org/W2020421963","https://openalex.org/W2020966397","https://openalex.org/W2021116357","https://openalex.org/W2033082876","https://openalex.org/W2036210716","https://openalex.org/W2041241597","https://openalex.org/W2044702943","https://openalex.org/W2048871728","https://openalex.org/W2062920562","https://openalex.org/W2064296460","https://openalex.org/W2070842365","https://openalex.org/W2074038593","https://openalex.org/W2081783366","https://openalex.org/W2096283457","https://openalex.org/W2099068165","https://openalex.org/W2100175648","https://openalex.org/W2101893734","https://openalex.org/W2103441770","https://openalex.org/W2111668248","https://openalex.org/W2111976489","https://openalex.org/W2116820741","https://openalex.org/W2149387942","https://openalex.org/W2155459861","https://openalex.org/W2168133698","https://openalex.org/W2168402945","https://openalex.org/W2169456326","https://openalex.org/W2171777347","https://openalex.org/W2560367415","https://openalex.org/W2885727518","https://openalex.org/W6604383057","https://openalex.org/W6632183046"],"related_works":["https://openalex.org/W2082854997","https://openalex.org/W2067008148","https://openalex.org/W1996915538","https://openalex.org/W2027462322","https://openalex.org/W4252074316","https://openalex.org/W2020439255","https://openalex.org/W146279132","https://openalex.org/W2013123516","https://openalex.org/W2005189508","https://openalex.org/W2898501112"],"abstract_inverted_index":{"The":[0],"rapid":[1],"progress":[2],"in":[3,144],"high-throughput":[4],"sequencing":[5,37,106,124,155,169,242],"has":[6,86],"significantly":[7],"enriched":[8],"our":[9,228],"capacity":[10],"for":[11,72,173,233],"studying":[12],"the":[13,32,50,96,128,133,162,191,199,207,214,221],"mitochondrial":[14,22,78,116,159,192,202,222,248],"DNA":[15],"(mtDNA).":[16],"In":[17,226],"addition":[18],"to":[19,38,94,131,190,198,213,220,238,246],"performing":[20],"specific":[21],"targeted":[23,123],"sequencing,":[24],"an":[25],"increasingly":[26],"popular":[27],"alternative":[28,73],"approach":[29,56],"is":[30],"using":[31,102],"off-target":[33],"reads":[34,188,197],"from":[35,83],"exome":[36,103,145,152,168,241],"infer":[39,247],"mtDNA":[40,99],"variants,":[41],"including":[42],"single":[43],"nucleotide":[44],"polymorphisms":[45],"(SNPs)":[46],"and":[47,52,104,119,135,141,146,153,184,201,210,218,250],"heteroplasmy.":[48,251],"However,":[49,161],"effectiveness":[51],"practicality":[53],"of":[54,98,139],"this":[55],"have":[57,64],"not":[58,87],"been":[59,66,88],"tested.":[60],"Recently,":[61],"RNAseq":[62,84,147,244],"data":[63,74,85,245],"also":[65],"suggested":[67],"as":[68,127],"a":[69,92,170],"good":[70],"source":[71],"mining,":[75],"but":[76],"whether":[77],"variants":[79],"can":[80,156],"be":[81],"detected":[82],"validated.":[89],"We":[90,149],"designed":[91],"study":[93,229],"evaluate":[95],"practicability":[97],"variant":[100],"detection":[101,143,175],"RNA":[105,120,154],"data.":[107,148],"Five":[108],"breast":[109],"cancer":[110],"cell":[111],"lines":[112],"were":[113],"sequenced":[114],"through":[115],"targeted,":[117],"exome,":[118],"sequencing.":[121],"Mitochondrial":[122],"was":[125],"used":[126],"gold":[129],"standard":[130],"compute":[132],"validation":[134],"false":[136,164],"discovery":[137,165],"rates":[138],"SNP":[140],"heteroplasmy":[142,174],"found":[150,185],"that":[151,186,211,236],"accurately":[157],"detect":[158],"SNPs.":[160],"lower":[163],"rate":[166],"makes":[167],"better":[171],"choice":[172],"than":[176],"RNAseq.":[177],"Furthermore,":[178],"we":[179],"examined":[180],"three":[181],"alignment":[182],"strategies":[183],"aligning":[187,196,212],"directly":[189],"reference":[193],"genome":[194,216,223],"or":[195,243],"nuclear":[200,215],"references":[203],"genomes":[204],"simultaneously":[205],"produced":[206],"best":[208],"results,":[209],"first":[217],"afterwards":[219],"performed":[224],"poorly.":[225],"conclusion,":[227],"provides":[230],"important":[231],"guidelines":[232],"future":[234],"studies":[235],"intend":[237],"use":[239],"either":[240],"SNPs":[249]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":5}],"updated_date":"2026-06-18T08:10:14.011955","created_date":"2025-10-10T00:00:00"}
