{"id":"https://openalex.org/W2779603631","doi":"https://doi.org/10.1093/bioinformatics/btx813","title":"SV2: accurate structural variation genotyping and <i>de novo</i> mutation detection from whole genomes","display_name":"SV2: accurate structural variation genotyping and <i>de novo</i> mutation detection from whole genomes","publication_year":2017,"publication_date":"2017-12-28","ids":{"openalex":"https://openalex.org/W2779603631","doi":"https://doi.org/10.1093/bioinformatics/btx813","mag":"2779603631","pmid":"https://pubmed.ncbi.nlm.nih.gov/29300834"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btx813","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx813","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/34/10/1774/25118212/btx813.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/34/10/1774/25118212/btx813.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089549807","display_name":"Danny Antaki","orcid":"https://orcid.org/0000-0003-0381-7801"},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Danny Antaki","raw_affiliation_strings":["Beyster Center for Genomics of Psychiatric Diseases, University of California San Diego, La Jolla, CA, USA","Biomedical Sciences Graduate Program, University of California San Diego, La Jolla, CA, USA","Department of Cellular and Molecular Medicine and Pediatrics, University of California San Diego, La Jolla, CA, USA","Department of Psychiatry, University of California San Diego, La Jolla, CA, USA"],"affiliations":[{"raw_affiliation_string":"Beyster Center for Genomics of Psychiatric Diseases, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]},{"raw_affiliation_string":"Biomedical Sciences Graduate Program, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]},{"raw_affiliation_string":"Department of Cellular and Molecular Medicine and Pediatrics, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]},{"raw_affiliation_string":"Department of Psychiatry, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071679444","display_name":"William M. Brandler","orcid":"https://orcid.org/0000-0001-5280-325X"},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William M Brandler","raw_affiliation_strings":["Beyster Center for Genomics of Psychiatric Diseases, University of California San Diego, La Jolla, CA, USA","Department of Cellular and Molecular Medicine and Pediatrics, University of California San Diego, La Jolla, CA, USA","Department of Psychiatry, University of California San Diego, La Jolla, CA, USA"],"affiliations":[{"raw_affiliation_string":"Beyster Center for Genomics of Psychiatric Diseases, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]},{"raw_affiliation_string":"Department of Cellular and Molecular Medicine and Pediatrics, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]},{"raw_affiliation_string":"Department of Psychiatry, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088728907","display_name":"Jonathan Sebat","orcid":"https://orcid.org/0000-0002-9087-526X"},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Jonathan Sebat","raw_affiliation_strings":["Beyster Center for Genomics of Psychiatric Diseases, University of California San Diego, La Jolla, CA, USA","Department of Cellular and Molecular Medicine and Pediatrics, University of California San Diego, La Jolla, CA, USA","Department of Psychiatry, University of California San Diego, La Jolla, CA, USA"],"affiliations":[{"raw_affiliation_string":"Beyster Center for Genomics of Psychiatric Diseases, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]},{"raw_affiliation_string":"Department of Cellular and Molecular Medicine and Pediatrics, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]},{"raw_affiliation_string":"Department of Psychiatry, University of California San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5088728907"],"corresponding_institution_ids":["https://openalex.org/I36258959"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":6.6143,"has_fulltext":true,"cited_by_count":49,"citation_normalized_percentile":{"value":0.96712182,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":99},"biblio":{"volume":"34","issue":"10","first_page":"1774","last_page":"1777"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9998999834060669,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9998999834060669,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9986000061035156,"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":0.9973000288009644,"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/genotyping","display_name":"Genotyping","score":0.8826378583908081},{"id":"https://openalex.org/keywords/structural-variation","display_name":"Structural variation","score":0.6794869899749756},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.6199120283126831},{"id":"https://openalex.org/keywords/variation","display_name":"Variation (astronomy)","score":0.601985514163971},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5810375213623047},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5804330706596375},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.49142277240753174},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.44940561056137085},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.28395161032676697},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.09998920559883118},{"id":"https://openalex.org/keywords/physics","display_name":"Physics","score":0.05945998430252075}],"concepts":[{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.8826378583908081},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.6794869899749756},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6199120283126831},{"id":"https://openalex.org/C2778334786","wikidata":"https://www.wikidata.org/wiki/Q1586270","display_name":"Variation (astronomy)","level":2,"score":0.601985514163971},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5810375213623047},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5804330706596375},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.49142277240753174},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.44940561056137085},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.28395161032676697},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09998920559883118},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.05945998430252075},{"id":"https://openalex.org/C44870925","wikidata":"https://www.wikidata.org/wiki/Q37547","display_name":"Astrophysics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"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":"D012984","descriptor_name":"Software","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":false},{"descriptor_ui":"D012984","descriptor_name":"Software","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":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","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":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","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":3,"locations":[{"id":"doi:10.1093/bioinformatics/btx813","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx813","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/34/10/1774/25118212/btx813.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:29300834","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29300834","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:5490465","is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5946924","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":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btx813","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx813","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/34/10/1774/25118212/btx813.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":[{"id":"https://openalex.org/G2477904069","display_name":null,"funder_award_id":"HG007497, MH076431 and MH113715","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G5219554831","display_name":null,"funder_award_id":"MH113715","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7142947217","display_name":null,"funder_award_id":"HG007497","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8560538832","display_name":null,"funder_award_id":"GM008666","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320310598","display_name":"Amazon Web Services","ror":"https://ror.org/04mv4n011"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2779603631.pdf","grobid_xml":"https://content.openalex.org/works/W2779603631.grobid-xml"},"referenced_works_count":12,"referenced_works":["https://openalex.org/W1912672559","https://openalex.org/W1984514080","https://openalex.org/W1987523847","https://openalex.org/W2021714239","https://openalex.org/W2111350087","https://openalex.org/W2132731072","https://openalex.org/W2142095438","https://openalex.org/W2152956782","https://openalex.org/W2235737683","https://openalex.org/W2604384036","https://openalex.org/W2951164835","https://openalex.org/W6736124633"],"related_works":["https://openalex.org/W2386430105","https://openalex.org/W2378369506","https://openalex.org/W2356521405","https://openalex.org/W2353370357","https://openalex.org/W2806032235","https://openalex.org/W2755824586","https://openalex.org/W2038534795","https://openalex.org/W2043074282","https://openalex.org/W2203319208","https://openalex.org/W3193218983"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":12},{"year":2019,"cited_by_count":13},{"year":2018,"cited_by_count":5}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2018-01-05T00:00:00"}
