{"id":"https://openalex.org/W2277089966","doi":"https://doi.org/10.1007/978-3-642-35686-5_7","title":"A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data","display_name":"A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data","publication_year":2012,"publication_date":"2012-01-01","ids":{"openalex":"https://openalex.org/W2277089966","doi":"https://doi.org/10.1007/978-3-642-35686-5_7","mag":"2277089966"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-642-35686-5_7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-642-35686-5_7","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"},"type":"book-chapter","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078519267","display_name":"Roberta Spinelli","orcid":null},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Roberta Spinelli","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048891781","display_name":"Rocco Piazza","orcid":"https://orcid.org/0000-0003-4198-9620"},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Rocco Piazza","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012697146","display_name":"Alessandra Pirola","orcid":null},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Alessandra Pirola","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060310214","display_name":"Simona Valletta","orcid":"https://orcid.org/0000-0002-3524-4991"},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Simona Valletta","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061207151","display_name":"Roberta Rostagno","orcid":null},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Roberta Rostagno","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030804008","display_name":"Angela Mogavero","orcid":null},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Angela Mogavero","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005044695","display_name":"Manuela Marega","orcid":"https://orcid.org/0009-0005-5015-4280"},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Manuela Marega","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073172004","display_name":"Hima Raman","orcid":null},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Hima Raman","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5036874214","display_name":"Carlo Gambacorti\u2010Passerini","orcid":"https://orcid.org/0000-0001-6058-515X"},"institutions":[{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Carlo Gambacorti-Passerini","raw_affiliation_strings":["Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Clinical Medicine, University of Milano-Bicocca, Milan, Italy, via Cadore, 48, 20900, Monza (MB","institution_ids":["https://openalex.org/I66752286"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I66752286"],"apc_list":{"value":5000,"currency":"EUR","value_usd":5392},"apc_paid":null,"fwci":0.5297,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.79154376,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":94},"biblio":{"volume":null,"issue":null,"first_page":"73","last_page":"82"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9991999864578247,"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"}},"topics":[{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9991999864578247,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9988999962806702,"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":0.9976999759674072,"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/exome-sequencing","display_name":"Exome sequencing","score":0.7229214906692505},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6596362590789795},{"id":"https://openalex.org/keywords/sanger-sequencing","display_name":"Sanger sequencing","score":0.6532649397850037},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.560560405254364},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.5421837568283081},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.47919854521751404},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4578094184398651},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.43112218379974365},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.38032081723213196},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.3659265637397766},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.3559633493423462},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.24517908692359924},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2140766978263855},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2047385275363922},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.13296708464622498}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7229214906692505},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6596362590789795},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.6532649397850037},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.560560405254364},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5421837568283081},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.47919854521751404},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4578094184398651},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.43112218379974365},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.38032081723213196},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.3659265637397766},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3559633493423462},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.24517908692359924},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2140766978263855},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2047385275363922},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13296708464622498}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1007/978-3-642-35686-5_7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-642-35686-5_7","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"},{"id":"pmh:oai:boa.unimib.it:10281/40373","is_oa":false,"landing_page_url":"http://www.springer.com/computer/theoretical+computer+science/book/978-3-642-35685-8","pdf_url":null,"source":{"id":"https://openalex.org/S4306401259","display_name":"BOA (University of Milano-Bicocca)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I66752286","host_organization_name":"University of Milano-Bicocca","host_organization_lineage":["https://openalex.org/I66752286"],"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/bookPart"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.5,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1672138775","https://openalex.org/W1973878786","https://openalex.org/W1980740976","https://openalex.org/W1984068087","https://openalex.org/W2005250386","https://openalex.org/W2087588809","https://openalex.org/W2100572346","https://openalex.org/W2103441770","https://openalex.org/W2107318366","https://openalex.org/W2108234281","https://openalex.org/W2108698786","https://openalex.org/W2119923823","https://openalex.org/W2145187337","https://openalex.org/W4247053599","https://openalex.org/W6676286517"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W3155789666","https://openalex.org/W1963926818","https://openalex.org/W2883352634","https://openalex.org/W3011357560","https://openalex.org/W2568725330","https://openalex.org/W2975723627","https://openalex.org/W2514251678","https://openalex.org/W2947195574","https://openalex.org/W2041066325"],"abstract_inverted_index":null,"counts_by_year":[{"year":2012,"cited_by_count":1}],"updated_date":"2026-06-26T08:34:08.712188","created_date":"2025-10-10T00:00:00"}
