{"id":"https://openalex.org/W2739069495","doi":"https://doi.org/10.1093/bioinformatics/btx475","title":"myVCF: a desktop application for high-throughput mutations data management","display_name":"myVCF: a desktop application for high-throughput mutations data management","publication_year":2017,"publication_date":"2017-07-21","ids":{"openalex":"https://openalex.org/W2739069495","doi":"https://doi.org/10.1093/bioinformatics/btx475","mag":"2739069495","pmid":"https://pubmed.ncbi.nlm.nih.gov/29036298"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btx475","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx475","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/22/3676/25167615/btx475.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":null,"license_id":null,"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":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/33/22/3676/25167615/btx475.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065981830","display_name":"Alessandro Pietrelli","orcid":"https://orcid.org/0000-0003-0241-8542"},"institutions":[{"id":"https://openalex.org/I4210160365","display_name":"Istituto Nazionale Genetica Molecolare","ror":"https://ror.org/05rb1q636","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210160365"]},{"id":"https://openalex.org/I2803066834","display_name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","ror":"https://ror.org/016zn0y21","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2803066834","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Alessandro Pietrelli","raw_affiliation_strings":["Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milano, Italy","Istituto Nazionale Genetica Molecolare (INGM), \u2018Romeo ed Enrica Invernizzi\u2019, Bioinformatic Group, Milan, Italy","Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy","Istituto Nazionale Genetica Molecolare (INGM), 'Romeo ed Enrica Invernizzi', Bioinformatic Group, Milan, Italy"],"affiliations":[{"raw_affiliation_string":"Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milano, Italy","institution_ids":["https://openalex.org/I2803066834"]},{"raw_affiliation_string":"Istituto Nazionale Genetica Molecolare (INGM), \u2018Romeo ed Enrica Invernizzi\u2019, Bioinformatic Group, Milan, Italy","institution_ids":["https://openalex.org/I4210160365"]},{"raw_affiliation_string":"Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy","institution_ids":["https://openalex.org/I2803066834"]},{"raw_affiliation_string":"Istituto Nazionale Genetica Molecolare (INGM), 'Romeo ed Enrica Invernizzi', Bioinformatic Group, Milan, Italy","institution_ids":["https://openalex.org/I4210160365"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050497878","display_name":"Luca Valenti","orcid":"https://orcid.org/0000-0001-8909-0345"},"institutions":[{"id":"https://openalex.org/I2803066834","display_name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","ror":"https://ror.org/016zn0y21","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2803066834","https://openalex.org/I4210153126"]},{"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":"Luca Valenti","raw_affiliation_strings":["Department of Pathophysiology and Transplantation, Universit\u00e0 degli Studi Milano, Milan, Italy","Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milano, Italy","Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy"],"affiliations":[{"raw_affiliation_string":"Department of Pathophysiology and Transplantation, Universit\u00e0 degli Studi Milano, Milan, Italy","institution_ids":["https://openalex.org/I189158943"]},{"raw_affiliation_string":"Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milano, Italy","institution_ids":["https://openalex.org/I2803066834"]},{"raw_affiliation_string":"Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy","institution_ids":["https://openalex.org/I2803066834"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5065981830"],"corresponding_institution_ids":["https://openalex.org/I2803066834","https://openalex.org/I4210160365"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":1.261,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.82066945,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"33","issue":"22","first_page":"3676","last_page":"3678"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9965999722480774,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9933000206947327,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9890000224113464,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/dbsnp","display_name":"dbSNP","score":0.7811636924743652},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.75066077709198},{"id":"https://openalex.org/keywords/data-management","display_name":"Data management","score":0.48549583554267883},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.47651755809783936},{"id":"https://openalex.org/keywords/throughput","display_name":"Throughput","score":0.415036141872406},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.41227802634239197},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.39809539914131165},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3337031602859497},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.3233035206794739},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.30724942684173584},{"id":"https://openalex.org/keywords/operating-system","display_name":"Operating system","score":0.21773818135261536},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.15005338191986084},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.13190403580665588},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.11077499389648438},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.10953494906425476},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.08949437737464905}],"concepts":[{"id":"https://openalex.org/C35794970","wikidata":"https://www.wikidata.org/wiki/Q5243761","display_name":"dbSNP","level":5,"score":0.7811636924743652},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.75066077709198},{"id":"https://openalex.org/C1668388","wikidata":"https://www.wikidata.org/wiki/Q1149776","display_name":"Data management","level":2,"score":0.48549583554267883},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.47651755809783936},{"id":"https://openalex.org/C157764524","wikidata":"https://www.wikidata.org/wiki/Q1383412","display_name":"Throughput","level":3,"score":0.415036141872406},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.41227802634239197},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.39809539914131165},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3337031602859497},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.3233035206794739},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.30724942684173584},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.21773818135261536},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15005338191986084},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.13190403580665588},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11077499389648438},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.10953494906425476},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.08949437737464905},{"id":"https://openalex.org/C555944384","wikidata":"https://www.wikidata.org/wiki/Q249","display_name":"Wireless","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","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":"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":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"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":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058436","descriptor_name":"Knowledge Management","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058436","descriptor_name":"Knowledge Management","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058436","descriptor_name":"Knowledge Management","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":3,"locations":[{"id":"doi:10.1093/bioinformatics/btx475","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx475","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/22/3676/25167615/btx475.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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:29036298","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29036298","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:zenodo.org:100847","is_oa":true,"landing_page_url":"https://www.openaccessrepository.it/record/100847","pdf_url":null,"source":{"id":"https://openalex.org/S4306402478","display_name":"INFM-OAR (INFN Catania)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210116497","host_organization_name":"Istituto Nazionale di Fisica Nucleare, Sezione di Catania","host_organization_lineage":["https://openalex.org/I4210116497"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btx475","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx475","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/22/3676/25167615/btx475.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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2739069495.pdf","grobid_xml":"https://content.openalex.org/works/W2739069495.grobid-xml"},"referenced_works_count":14,"referenced_works":["https://openalex.org/W1723383946","https://openalex.org/W1981605643","https://openalex.org/W1984068087","https://openalex.org/W2012302769","https://openalex.org/W2056015955","https://openalex.org/W2104549677","https://openalex.org/W2119180969","https://openalex.org/W2121984048","https://openalex.org/W2143238378","https://openalex.org/W2146973661","https://openalex.org/W2149992227","https://openalex.org/W2154866190","https://openalex.org/W2256016639","https://openalex.org/W2417483443"],"related_works":["https://openalex.org/W2328463125","https://openalex.org/W2971836029","https://openalex.org/W2560041844","https://openalex.org/W2323350640","https://openalex.org/W2992125635","https://openalex.org/W2025871751","https://openalex.org/W3114034193","https://openalex.org/W1174898457","https://openalex.org/W2018130645","https://openalex.org/W2534681354"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":5}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}