{"id":"https://openalex.org/W2146112039","doi":"https://doi.org/10.1093/bioinformatics/btu483","title":"MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing","display_name":"MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing","publication_year":2014,"publication_date":"2014-07-14","ids":{"openalex":"https://openalex.org/W2146112039","doi":"https://doi.org/10.1093/bioinformatics/btu483","mag":"2146112039","pmid":"https://pubmed.ncbi.nlm.nih.gov/25028726"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btu483","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu483","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/21/3115/48930994/bioinformatics_30_21_3115.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/30/21/3115/48930994/bioinformatics_30_21_3115.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5030751682","display_name":"Claudia Calabrese","orcid":"https://orcid.org/0000-0002-8941-2620"},"institutions":[{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Claudia Calabrese","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059527335","display_name":"Domenico Simone","orcid":"https://orcid.org/0000-0003-2858-9809"},"institutions":[{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Domenico Simone","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089301537","display_name":"Maria Angela Diroma","orcid":"https://orcid.org/0000-0003-1427-8946"},"institutions":[{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]},{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Maria Angela Diroma","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009037969","display_name":"Mariangela Santorsola","orcid":"https://orcid.org/0000-0001-8514-932X"},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Mariangela Santorsola","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054415499","display_name":"Cristiano Gutt\u00e0","orcid":null},"institutions":[{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]},{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Cristiano Gutt\u00e0","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009635225","display_name":"Giuseppe Gasparre","orcid":"https://orcid.org/0000-0003-1229-9006"},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giuseppe Gasparre","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087315441","display_name":"Ernesto Picardi","orcid":"https://orcid.org/0000-0002-6549-0114"},"institutions":[{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ernesto Picardi","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005312066","display_name":"Graziano Pesole","orcid":"https://orcid.org/0000-0003-3663-0859"},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Graziano Pesole","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063116840","display_name":"Marcella Attimonelli","orcid":"https://orcid.org/0000-0003-2091-8364"},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"funder","lineage":["https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]},{"id":"https://openalex.org/I4210148743","display_name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies","ror":"https://ror.org/05nzf7q96","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210148743","https://openalex.org/I4210155236"]},{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I9360294","display_name":"University of Bologna","ror":"https://ror.org/01111rn36","country_code":"IT","type":"education","lineage":["https://openalex.org/I9360294"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Marcella Attimonelli","raw_affiliation_strings":["1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy"],"affiliations":[{"raw_affiliation_string":"1 Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, 2 Department of Biosciences, University of Milan, 20133 Milan, 3 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70126 Bari, 4 Department of Sciences and Technologies, University of Sannio, 82100 Benevento, 5 Institute of Biomembranes and Bioenergetics, National Research Council, 70126 Bari, 6 National Institute of Biostructures and Biosystems, 00136 Rome and 7 Center of Excellence in Genomics for Biomedicine and Agri-food (CEGBA), University of Bari, 70126 Bari, Italy","institution_ids":["https://openalex.org/I4210155236","https://openalex.org/I9360294","https://openalex.org/I4210148743","https://openalex.org/I5561750","https://openalex.org/I189158943"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5030751682"],"corresponding_institution_ids":["https://openalex.org/I189158943","https://openalex.org/I4210148743","https://openalex.org/I4210155236","https://openalex.org/I5561750","https://openalex.org/I9360294"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":6.1211,"has_fulltext":true,"cited_by_count":225,"citation_normalized_percentile":{"value":0.97273779,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"30","issue":"21","first_page":"3115","last_page":"3117"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10836","display_name":"Metabolomics and Mass Spectrometry Studies","score":0.9990000128746033,"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/T10836","display_name":"Metabolomics and Mass Spectrometry Studies","score":0.9990000128746033,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9983999729156494,"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":0.9977999925613403,"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":0.8813573122024536},{"id":"https://openalex.org/keywords/pipeline","display_name":"Pipeline (software)","score":0.616978645324707},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.6085488200187683},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.6077443361282349},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.6053436994552612},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5679251551628113},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.5214782953262329},{"id":"https://openalex.org/keywords/prioritization","display_name":"Prioritization","score":0.5184630751609802},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5131283402442932},{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"Mitochondrial DNA","score":0.4869767129421234},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.4596942961215973},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.45296669006347656},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4330308437347412},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.4313367009162903},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.4308122992515564},{"id":"https://openalex.org/keywords/human-mitochondrial-genetics","display_name":"Human mitochondrial genetics","score":0.4295892119407654},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4066583216190338},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.231818288564682},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.09936508536338806},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.09919902682304382},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.07319554686546326}],"concepts":[{"id":"https://openalex.org/C181561989","wikidata":"https://www.wikidata.org/wiki/Q2581905","display_name":"Heteroplasmy","level":4,"score":0.8813573122024536},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.616978645324707},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6085488200187683},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6077443361282349},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.6053436994552612},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5679251551628113},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.5214782953262329},{"id":"https://openalex.org/C2777615720","wikidata":"https://www.wikidata.org/wiki/Q11888847","display_name":"Prioritization","level":2,"score":0.5184630751609802},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5131283402442932},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.4869767129421234},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4596942961215973},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.45296669006347656},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4330308437347412},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4313367009162903},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4308122992515564},{"id":"https://openalex.org/C151994961","wikidata":"https://www.wikidata.org/wiki/Q715263","display_name":"Human mitochondrial genetics","level":4,"score":0.4295892119407654},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4066583216190338},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.231818288564682},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.09936508536338806},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.09919902682304382},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.07319554686546326},{"id":"https://openalex.org/C539667460","wikidata":"https://www.wikidata.org/wiki/Q2414942","display_name":"Management science","level":1,"score":0.0},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000737","qualifier_name":"chemistry","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":"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":"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":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D054629","descriptor_name":"Genome, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D054629","descriptor_name":"Genome, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D054629","descriptor_name":"Genome, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/bioinformatics/btu483","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu483","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/21/3115/48930994/bioinformatics_30_21_3115.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:25028726","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25028726","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:cris.unibo.it:11585/314118","is_oa":false,"landing_page_url":"http://hdl.handle.net/11585/314118","pdf_url":null,"source":{"id":"https://openalex.org/S4306402579","display_name":"Archivio istituzionale della ricerca (Alma Mater Studiorum Universit\u00e0 di Bologna)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210117483","host_organization_name":"Istituto di Ematologia di Bologna","host_organization_lineage":["https://openalex.org/I4210117483"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4201154","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4201154","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"},{"id":"pmh:oai:ricerca.uniba.it:11586/136130","is_oa":false,"landing_page_url":"http://bioinformatics.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=25028726","pdf_url":null,"source":{"id":"https://openalex.org/S4377196296","display_name":"CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I5561750","host_organization_name":"University of Bari Aldo Moro","host_organization_lineage":["https://openalex.org/I5561750"],"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":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btu483","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu483","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/21/3115/48930994/bioinformatics_30_21_3115.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Industry, innovation and infrastructure","id":"https://metadata.un.org/sdg/9","score":0.5199999809265137}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2146112039.pdf","grobid_xml":"https://content.openalex.org/works/W2146112039.grobid-xml"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W1546375972","https://openalex.org/W1978537438","https://openalex.org/W2005520835","https://openalex.org/W2005581687","https://openalex.org/W2009428257","https://openalex.org/W2028270439","https://openalex.org/W2074038593","https://openalex.org/W2096791516","https://openalex.org/W2111668248","https://openalex.org/W2111976489","https://openalex.org/W2134905460","https://openalex.org/W2147592920","https://openalex.org/W2168402945"],"related_works":["https://openalex.org/W2082854997","https://openalex.org/W2067008148","https://openalex.org/W1996915538","https://openalex.org/W4252074316","https://openalex.org/W146279132","https://openalex.org/W2020439255","https://openalex.org/W2013123516","https://openalex.org/W3019375915","https://openalex.org/W2005189508","https://openalex.org/W2898501112"],"abstract_inverted_index":{"MToolBox":[0],"package":[1],"is":[2],"available":[3],"at":[4],"https://sourceforge.net/projects/mtoolbox/.":[5]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":35},{"year":2023,"cited_by_count":18},{"year":2022,"cited_by_count":22},{"year":2021,"cited_by_count":36},{"year":2020,"cited_by_count":23},{"year":2019,"cited_by_count":14},{"year":2018,"cited_by_count":20},{"year":2017,"cited_by_count":22},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":4}],"updated_date":"2026-03-25T14:56:36.534964","created_date":"2025-10-10T00:00:00"}
