{"id":"https://openalex.org/W2118143563","doi":"https://doi.org/10.1093/bioinformatics/btr667","title":"Integrated annotation and analysis of genetic variants from next-generation sequencing studies with <i>variant tools</i>","display_name":"Integrated annotation and analysis of genetic variants from next-generation sequencing studies with <i>variant tools</i>","publication_year":2011,"publication_date":"2011-12-02","ids":{"openalex":"https://openalex.org/W2118143563","doi":"https://doi.org/10.1093/bioinformatics/btr667","mag":"2118143563","pmid":"https://pubmed.ncbi.nlm.nih.gov/22138362"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btr667","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr667","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/28/3/421/48879065/bioinformatics_28_3_421.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/28/3/421/48879065/bioinformatics_28_3_421.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109216248","display_name":"F. Anthony San Lucas","orcid":null},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"funder","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"F. Anthony San Lucas","raw_affiliation_strings":["1 Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 2Program in Biomathematics and Biostatistics, University of Texas Graduate School of Biomedical Sciences and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 4Department of Genetics, University of Texas, MD Anderson Cancer Center"],"affiliations":[{"raw_affiliation_string":"1 Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 2Program in Biomathematics and Biostatistics, University of Texas Graduate School of Biomedical Sciences and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 4Department of Genetics, University of Texas, MD Anderson Cancer Center","institution_ids":["https://openalex.org/I1343551460","https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100648728","display_name":"Gao Wang","orcid":"https://orcid.org/0000-0001-9336-402X"},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"funder","lineage":["https://openalex.org/I1343551460"]},{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gao Wang","raw_affiliation_strings":["1 Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 2Program in Biomathematics and Biostatistics, University of Texas Graduate School of Biomedical Sciences and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 4Department of Genetics, University of Texas, MD Anderson Cancer Center"],"affiliations":[{"raw_affiliation_string":"1 Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 2Program in Biomathematics and Biostatistics, University of Texas Graduate School of Biomedical Sciences and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 4Department of Genetics, University of Texas, MD Anderson Cancer Center","institution_ids":["https://openalex.org/I1343551460","https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054223849","display_name":"Paul Scheet","orcid":"https://orcid.org/0000-0002-5173-7497"},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"funder","lineage":["https://openalex.org/I1343551460"]},{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paul Scheet","raw_affiliation_strings":["1 Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 2Program in Biomathematics and Biostatistics, University of Texas Graduate School of Biomedical Sciences and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 4Department of Genetics, University of Texas, MD Anderson Cancer Center"],"affiliations":[{"raw_affiliation_string":"1 Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 2Program in Biomathematics and Biostatistics, University of Texas Graduate School of Biomedical Sciences and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 4Department of Genetics, University of Texas, MD Anderson Cancer Center","institution_ids":["https://openalex.org/I1343551460","https://openalex.org/I181547552"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025424500","display_name":"Bo Peng","orcid":"https://orcid.org/0000-0001-8225-2284"},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"funder","lineage":["https://openalex.org/I1343551460"]},{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bo Peng","raw_affiliation_strings":["1 Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 2Program in Biomathematics and Biostatistics, University of Texas Graduate School of Biomedical Sciences and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 4Department of Genetics, University of Texas, MD Anderson Cancer Center"],"affiliations":[{"raw_affiliation_string":"1 Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 2Program in Biomathematics and Biostatistics, University of Texas Graduate School of Biomedical Sciences and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 4Department of Genetics, University of Texas, MD Anderson Cancer Center","institution_ids":["https://openalex.org/I1343551460","https://openalex.org/I181547552"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5109216248"],"corresponding_institution_ids":["https://openalex.org/I1343551460","https://openalex.org/I181547552"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":3.8686,"has_fulltext":true,"cited_by_count":143,"citation_normalized_percentile":{"value":0.94434212,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":100},"biblio":{"volume":"28","issue":"3","first_page":"421","last_page":"422"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9987999796867371,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9987999796867371,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9904000163078308,"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/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.9510999917984009,"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/annotation","display_name":"Annotation","score":0.8713932037353516},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.7730197906494141},{"id":"https://openalex.org/keywords/mit-license","display_name":"MIT License","score":0.6981544494628906},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.4235192835330963},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.4169350564479828},{"id":"https://openalex.org/keywords/license","display_name":"License","score":0.4111979305744171},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.39849284291267395},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.20110106468200684},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.16185474395751953},{"id":"https://openalex.org/keywords/operating-system","display_name":"Operating system","score":0.13061362504959106}],"concepts":[{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.8713932037353516},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7730197906494141},{"id":"https://openalex.org/C174183944","wikidata":"https://www.wikidata.org/wiki/Q334661","display_name":"MIT License","level":3,"score":0.6981544494628906},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.4235192835330963},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.4169350564479828},{"id":"https://openalex.org/C2780560020","wikidata":"https://www.wikidata.org/wiki/Q79719","display_name":"License","level":2,"score":0.4111979305744171},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.39849284291267395},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.20110106468200684},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.16185474395751953},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.13061362504959106}],"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":"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":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"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":"D053858","descriptor_name":"Metabolic Networks and Pathways","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053858","descriptor_name":"Metabolic Networks and Pathways","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053858","descriptor_name":"Metabolic Networks and Pathways","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":"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":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btr667","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr667","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/28/3/421/48879065/bioinformatics_28_3_421.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:22138362","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22138362","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:europepmc.org:2557557","is_oa":false,"landing_page_url":"http://europepmc.org/articles/PMC3268240","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":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3268240","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3268240","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"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btr667","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr667","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/28/3/421/48879065/bioinformatics_28_3_421.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":[{"display_name":"Industry, innovation and infrastructure","score":0.5,"id":"https://metadata.un.org/sdg/9"}],"awards":[{"id":"https://openalex.org/G6531815785","display_name":null,"funder_award_id":"R01HG005859","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2118143563.pdf","grobid_xml":"https://content.openalex.org/works/W2118143563.grobid-xml"},"referenced_works_count":8,"referenced_works":["https://openalex.org/W1984068087","https://openalex.org/W2087588809","https://openalex.org/W2102619694","https://openalex.org/W2127640118","https://openalex.org/W2149992227","https://openalex.org/W2159482845","https://openalex.org/W2915985519","https://openalex.org/W4294216483"],"related_works":["https://openalex.org/W2036021480","https://openalex.org/W2546377002","https://openalex.org/W4285209474","https://openalex.org/W2046541848","https://openalex.org/W22571951","https://openalex.org/W4384009753","https://openalex.org/W2791776396","https://openalex.org/W4286531993","https://openalex.org/W2964820744","https://openalex.org/W2249393407"],"abstract_inverted_index":{"bpeng@mdanderson.org.":[0]},"counts_by_year":[{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":14},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":11},{"year":2021,"cited_by_count":13},{"year":2020,"cited_by_count":11},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":13},{"year":2017,"cited_by_count":12},{"year":2016,"cited_by_count":13},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":12},{"year":2013,"cited_by_count":13},{"year":2012,"cited_by_count":4}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2016-06-24T00:00:00"}
