{"id":"https://openalex.org/W2081746044","doi":"https://doi.org/10.1371/journal.pcbi.1002714","title":"Confidence-based Somatic Mutation Evaluation and Prioritization","display_name":"Confidence-based Somatic Mutation Evaluation and Prioritization","publication_year":2012,"publication_date":"2012-09-27","ids":{"openalex":"https://openalex.org/W2081746044","doi":"https://doi.org/10.1371/journal.pcbi.1002714","mag":"2081746044","pmid":"https://pubmed.ncbi.nlm.nih.gov/23028300"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1002714","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002714","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002714&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002714&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111467155","display_name":"Martin L\u00f6wer","orcid":null},"institutions":[{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Martin L\u00f6wer","raw_affiliation_strings":["TRON - Translational Oncology at Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"TRON - Translational Oncology at Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":[]},{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005996110","display_name":"Bernhard Y. Renard","orcid":"https://orcid.org/0000-0003-4589-9809"},"institutions":[{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]},{"id":"https://openalex.org/I24359323","display_name":"Robert Koch Institute","ror":"https://ror.org/01k5qnb77","country_code":"DE","type":"government","lineage":["https://openalex.org/I24359323"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bernhard Y. Renard","raw_affiliation_strings":["Research Group Bioinformatics (NG 4), Robert Koch-Institut, Berlin, Germany","TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"Research Group Bioinformatics (NG 4), Robert Koch-Institut, Berlin, Germany","institution_ids":["https://openalex.org/I24359323"]},{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111794450","display_name":"Jos de Graaf","orcid":null},"institutions":[{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jos de Graaf","raw_affiliation_strings":["TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044080921","display_name":"Meike Wagner","orcid":null},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]},{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Meike Wagner","raw_affiliation_strings":["Department of Internal Medicine III, Division of Translational and Experimental Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany","TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine III, Division of Translational and Experimental Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058426254","display_name":"Claudia Paret","orcid":"https://orcid.org/0000-0002-9094-1634"},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Claudia Paret","raw_affiliation_strings":["TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036418129","display_name":"Kneip Christoph","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christoph Kneip","raw_affiliation_strings":["Theracode GmbH, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"Theracode GmbH, Mainz, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000036560","display_name":"\u00d6zlem T\u00fcreci","orcid":"https://orcid.org/0000-0002-0623-1497"},"institutions":[{"id":"https://openalex.org/I4210145033","display_name":"MerLion Pharma (Germany)","ror":"https://ror.org/04kark913","country_code":"DE","type":"company","lineage":["https://openalex.org/I4210145033"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"\u00d6zlem T\u00fcreci","raw_affiliation_strings":["Ganymed Pharmaceuticals AG, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"Ganymed Pharmaceuticals AG, Mainz, Germany","institution_ids":["https://openalex.org/I4210145033"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077961362","display_name":"Mustafa Diken","orcid":"https://orcid.org/0009-0005-4391-4042"},"institutions":[{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Mustafa Diken","raw_affiliation_strings":["TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036257821","display_name":"Cedrik M. Britten","orcid":"https://orcid.org/0000-0003-3424-8760"},"institutions":[{"id":"https://openalex.org/I4210105988","display_name":"Ribocon (Germany)","ror":"https://ror.org/01gdx5384","country_code":"DE","type":"company","lineage":["https://openalex.org/I4210105988"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Cedrik Britten","raw_affiliation_strings":["Ribological GmbH, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"Ribological GmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210105988"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011084407","display_name":"Sebastian Kreiter","orcid":"https://orcid.org/0000-0001-8569-693X"},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sebastian Kreiter","raw_affiliation_strings":["TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101707684","display_name":"Michael Koslowski","orcid":null},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Michael Koslowski","raw_affiliation_strings":["TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079846160","display_name":"John C. Castle","orcid":"https://orcid.org/0000-0002-6017-7794"},"institutions":[{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"John C. Castle","raw_affiliation_strings":["TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075617216","display_name":"U\u011fur \u015eahin","orcid":"https://orcid.org/0000-0003-0363-1564"},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210149035","display_name":"Translationale Onkologie an der Universit\u00e4tsmedizin der Johannes Gutenberg-Universit\u00e4t Mainz","ror":"https://ror.org/04sz26p89","country_code":"DE","type":"nonprofit","lineage":["https://openalex.org/I4210149035"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Ugur Sahin","raw_affiliation_strings":["TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany"],"affiliations":[{"raw_affiliation_string":"TRON - Translational Oncology at the Johannes Gutenberg University of Mainz Medicine, Mainz, Germany","institution_ids":["https://openalex.org/I4210149035","https://openalex.org/I197323543"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5075617216","https://openalex.org/A5079846160"],"corresponding_institution_ids":["https://openalex.org/I197323543","https://openalex.org/I4210149035"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":4.3483,"has_fulltext":true,"cited_by_count":33,"citation_normalized_percentile":{"value":0.94651711,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"8","issue":"9","first_page":"e1002714","last_page":"e1002714"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11764","display_name":"Evolution and Genetic Dynamics","score":0.9983000159263611,"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/T11764","display_name":"Evolution and Genetic Dynamics","score":0.9983000159263611,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9975000023841858,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10878","display_name":"CRISPR and Genetic Engineering","score":0.996999979019165,"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/germline-mutation","display_name":"Germline mutation","score":0.572493314743042},{"id":"https://openalex.org/keywords/mutation-rate","display_name":"Mutation rate","score":0.5489374995231628},{"id":"https://openalex.org/keywords/confidence-interval","display_name":"Confidence interval","score":0.5451277494430542},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5053732991218567},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.4920780062675476},{"id":"https://openalex.org/keywords/false-discovery-rate","display_name":"False discovery rate","score":0.4883374869823456},{"id":"https://openalex.org/keywords/somatic-cell","display_name":"Somatic cell","score":0.4807681739330292},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4361228942871094},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.427262544631958},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.173785001039505},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.10737773776054382},{"id":"https://openalex.org/keywords/internal-medicine","display_name":"Internal medicine","score":0.09117397665977478}],"concepts":[{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.572493314743042},{"id":"https://openalex.org/C98638677","wikidata":"https://www.wikidata.org/wiki/Q2067051","display_name":"Mutation rate","level":3,"score":0.5489374995231628},{"id":"https://openalex.org/C44249647","wikidata":"https://www.wikidata.org/wiki/Q208498","display_name":"Confidence interval","level":2,"score":0.5451277494430542},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5053732991218567},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4920780062675476},{"id":"https://openalex.org/C193244246","wikidata":"https://www.wikidata.org/wiki/Q5432696","display_name":"False discovery rate","level":3,"score":0.4883374869823456},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.4807681739330292},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4361228942871094},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.427262544631958},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.173785001039505},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10737773776054382},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.09117397665977478}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004273","descriptor_name":"DNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004273","descriptor_name":"DNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004273","descriptor_name":"DNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005189","descriptor_name":"False Positive Reactions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005189","descriptor_name":"False Positive Reactions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005189","descriptor_name":"False Positive Reactions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008545","descriptor_name":"Melanoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008545","descriptor_name":"Melanoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008545","descriptor_name":"Melanoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"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":"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":"D016477","descriptor_name":"Artifacts","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016477","descriptor_name":"Artifacts","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016477","descriptor_name":"Artifacts","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":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","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}],"locations_count":8,"locations":[{"id":"doi:10.1371/journal.pcbi.1002714","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002714","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002714&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},{"id":"pmid:23028300","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23028300","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":"PLoS computational biology","raw_type":null},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/110677","is_oa":true,"landing_page_url":"http://hdl.handle.net/2066/110677","pdf_url":"http://hdl.handle.net/2066/110677","source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"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":"Plos Computational Biology, 8, e1002714 - e1002714","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:RKI.de:2666","is_oa":false,"landing_page_url":"http://edoc.rki.de/docviews/abstract.php?id=2666","pdf_url":null,"source":{"id":"https://openalex.org/S4306400512","display_name":"Publication server of the Robert Koch Institute (Robert Kock Institute)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I24359323","host_organization_name":"Robert Koch Institute","host_organization_lineage":["https://openalex.org/I24359323"],"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:RePEc:plo:pcbi00:1002714","is_oa":false,"landing_page_url":"https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1002714","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"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":"article"},{"id":"pmh:oai:doaj.org/article:1c52d2b15f6f4004b65dab08bbc818ce","is_oa":true,"landing_page_url":"https://doaj.org/article/1c52d2b15f6f4004b65dab08bbc818ce","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 8, Iss 9, p e1002714 (2012)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/119286","is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Confidence_based_Somatic_Mutation_Evaluation_and_Prioritization/119286","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},{"id":"pmh:oai:pubmedcentral.nih.gov:3459886","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3459886","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1002714","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002714","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002714&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/10","display_name":"Reduced inequalities","score":0.6100000143051147}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2081746044.pdf","grobid_xml":"https://content.openalex.org/works/W2081746044.grobid-xml"},"referenced_works_count":35,"referenced_works":["https://openalex.org/W273955616","https://openalex.org/W1986303704","https://openalex.org/W2073889874","https://openalex.org/W2084341220","https://openalex.org/W2087464200","https://openalex.org/W2103441770","https://openalex.org/W2107903949","https://openalex.org/W2108234281","https://openalex.org/W2115610250","https://openalex.org/W2120142944","https://openalex.org/W2121531763","https://openalex.org/W2122732537","https://openalex.org/W2124985265","https://openalex.org/W2127640118","https://openalex.org/W2128262534","https://openalex.org/W2129504003","https://openalex.org/W2133291901","https://openalex.org/W2133604043","https://openalex.org/W2141119617","https://openalex.org/W2143173327","https://openalex.org/W2146222452","https://openalex.org/W2149507559","https://openalex.org/W2151464048","https://openalex.org/W2151794156","https://openalex.org/W2154431984","https://openalex.org/W2154537630","https://openalex.org/W2156434996","https://openalex.org/W2158698691","https://openalex.org/W2160455305","https://openalex.org/W2167827709","https://openalex.org/W2168133698","https://openalex.org/W2568562539","https://openalex.org/W2582743722","https://openalex.org/W2916083703","https://openalex.org/W4230932396"],"related_works":["https://openalex.org/W4296060409","https://openalex.org/W2146397496","https://openalex.org/W3111064715","https://openalex.org/W2076383445","https://openalex.org/W2016712296","https://openalex.org/W2136281516","https://openalex.org/W4281740518","https://openalex.org/W2025340064","https://openalex.org/W4384665577","https://openalex.org/W2592888218"],"abstract_inverted_index":{"Next":[0],"generation":[1],"sequencing":[2,80],"(NGS)":[3],"has":[4],"enabled":[5],"high":[6,137,144],"throughput":[7],"discovery":[8,58],"of":[9,87,142,150,153,163,174,184],"somatic":[10,25,63,105,124,146,158,210],"mutations.":[11,106],"Detection":[12],"depends":[13],"on":[14],"experimental":[15],"design,":[16],"lab":[17,185],"platforms,":[18],"parameters":[19],"and":[20,39,90,101,132,161,186,192],"analysis":[21],"algorithms.":[22],"However,":[23],"NGS-based":[24],"mutation":[26,64,211],"detection":[27],"is":[28],"prone":[29],"to":[30,51,61,103,178],"erroneous":[31,77],"calls,":[32],"with":[33,166],"reported":[34],"validation":[35],"rates":[36],"near":[37],"54%":[38],"congruence":[40],"between":[41],"algorithms":[42,98],"less":[43],"than":[44],"50%.":[45],"Here,":[46],"we":[47,94],"developed":[48],"an":[49,114,167],"algorithm":[50,112],"assign":[52],"a":[53,56,127,136,175],"single":[54,176,199],"statistic,":[55],"false":[57],"rate":[59],"(FDR),":[60],"each":[62,108],"identified":[65,109],"by":[66],"NGS.":[67],"This":[68],"FDR":[69,129,138,169,177],"confidence":[70,145,157,209],"value":[71],"accurately":[72],"discriminates":[73],"true":[74],"mutations":[75,119,125,134,147,159,165,180],"from":[76,83,204],"calls.":[78],"Using":[79,195],"data":[81],"generated":[82],"triplicate":[84],"exome":[85],"profiling":[86],"C57BL/6":[88],"mice":[89],"B16-F10":[91],"melanoma":[92],"cells,":[93],"used":[95],"the":[96,143,154,172,196,207],"existing":[97],"GATK,":[99],"SAMtools":[100],"SomaticSNiPer":[102],"identify":[104],"For":[107],"mutation,":[110],"our":[111],"assigned":[113,126,135],"FDR.":[115],"We":[116],"selected":[117],"139":[118],"for":[120],"validation,":[121],"including":[122,189],"50":[123,201],"low":[128,156],"(high":[130],"confidence)":[131],"44":[133,155],"(low":[139],"confidence).":[140],"All":[141],"validated":[148],"(50":[149],"50),":[151],"none":[152],"validated,":[160],"15":[162],"45":[164],"intermediate":[168],"validated.":[170],"Furthermore,":[171],"assignment":[173],"individual":[179],"enables":[181],"statistical":[182],"comparisons":[183],"computation":[187],"methodologies,":[188],"ROC":[190],"curves":[191],"AUC":[193],"metrics.":[194],"HiSeq":[197],"2000,":[198],"end":[200],"nt":[202],"reads":[203],"replicates":[205],"generate":[206],"highest":[208],"call":[212],"set.":[213]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":1}],"updated_date":"2026-04-04T16:13:02.066488","created_date":"2025-10-10T00:00:00"}