{"id":"https://openalex.org/W2012328875","doi":"https://doi.org/10.1093/bioinformatics/btu714","title":"Characterization of structural variants with single molecule and hybrid sequencing approaches","display_name":"Characterization of structural variants with single molecule and hybrid sequencing approaches","publication_year":2014,"publication_date":"2014-10-28","ids":{"openalex":"https://openalex.org/W2012328875","doi":"https://doi.org/10.1093/bioinformatics/btu714","mag":"2012328875","pmid":"https://pubmed.ncbi.nlm.nih.gov/25355789"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btu714","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu714","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/24/3458/48931794/bioinformatics_30_24_3458.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/30/24/3458/48931794/bioinformatics_30_24_3458.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087718701","display_name":"Anna Ritz","orcid":"https://orcid.org/0000-0002-7925-5369"},"institutions":[{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]},{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]},{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Anna Ritz","raw_affiliation_strings":["1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI"],"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI","institution_ids":["https://openalex.org/I68554272","https://openalex.org/I27804330","https://openalex.org/I156087764"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008757230","display_name":"Ali Bashir","orcid":"https://orcid.org/0000-0002-5240-9604"},"institutions":[{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]},{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]},{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ali Bashir","raw_affiliation_strings":["1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI"],"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI","institution_ids":["https://openalex.org/I68554272","https://openalex.org/I27804330","https://openalex.org/I156087764"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027970835","display_name":"Suzanne Sindi","orcid":"https://orcid.org/0000-0003-2742-4332"},"institutions":[{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]},{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]},{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Suzanne Sindi","raw_affiliation_strings":["1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI"],"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI","institution_ids":["https://openalex.org/I68554272","https://openalex.org/I27804330","https://openalex.org/I156087764"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101962233","display_name":"D. Frank Hsu","orcid":"https://orcid.org/0000-0003-0468-0843"},"institutions":[{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]},{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]},{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David Hsu","raw_affiliation_strings":["1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI"],"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI","institution_ids":["https://openalex.org/I68554272","https://openalex.org/I27804330","https://openalex.org/I156087764"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068064308","display_name":"Iman Hajirasouliha","orcid":"https://orcid.org/0000-0002-0600-3371"},"institutions":[{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]},{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]},{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Iman Hajirasouliha","raw_affiliation_strings":["1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI"],"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI","institution_ids":["https://openalex.org/I68554272","https://openalex.org/I27804330","https://openalex.org/I156087764"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025899028","display_name":"Benjamin J. Raphael","orcid":"https://orcid.org/0000-0003-1274-048X"},"institutions":[{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]},{"id":"https://openalex.org/I156087764","display_name":"University of California, Merced","ror":"https://ror.org/00d9ah105","country_code":"US","type":"education","lineage":["https://openalex.org/I156087764"]},{"id":"https://openalex.org/I68554272","display_name":"Pacific Biosciences (United States)","ror":"https://ror.org/00fcszb13","country_code":"US","type":"company","lineage":["https://openalex.org/I68554272"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Benjamin J. Raphael","raw_affiliation_strings":["1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI"],"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science, Brown University, RI 2 Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, NY 3 Institute for Genomics and Multiscale Biology, Icahn School of Medicine, Mount Sinai, NY 4 School of Natural Sciences, University of California, Merced, CA 5 Pacific Biosciences, Menlo Park, CA 6 Center for Computational Molecular Biology, Brown University, RI","institution_ids":["https://openalex.org/I68554272","https://openalex.org/I27804330","https://openalex.org/I156087764"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5087718701"],"corresponding_institution_ids":["https://openalex.org/I156087764","https://openalex.org/I27804330","https://openalex.org/I68554272"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":4.421,"has_fulltext":true,"cited_by_count":63,"citation_normalized_percentile":{"value":0.95274275,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"30","issue":"24","first_page":"3458","last_page":"3466"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9994000196456909,"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":0.9994000196456909,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9987000226974487,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9972000122070312,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.6863443851470947},{"id":"https://openalex.org/keywords/structural-variation","display_name":"Structural variation","score":0.6403040289878845},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5885794758796692},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5784655809402466},{"id":"https://openalex.org/keywords/illumina-dye-sequencing","display_name":"Illumina dye sequencing","score":0.47374117374420166},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4536052644252777},{"id":"https://openalex.org/keywords/sequence-assembly","display_name":"Sequence assembly","score":0.43650075793266296},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.4357430338859558},{"id":"https://openalex.org/keywords/hybrid-genome-assembly","display_name":"Hybrid genome assembly","score":0.41760313510894775},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4081254005432129},{"id":"https://openalex.org/keywords/reference-genome","display_name":"Reference genome","score":0.3480072021484375},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.3440064489841461},{"id":"https://openalex.org/keywords/dna","display_name":"DNA","score":0.25353723764419556},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.231403648853302}],"concepts":[{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.6863443851470947},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.6403040289878845},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5885794758796692},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5784655809402466},{"id":"https://openalex.org/C106337198","wikidata":"https://www.wikidata.org/wiki/Q13564012","display_name":"Illumina dye sequencing","level":4,"score":0.47374117374420166},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4536052644252777},{"id":"https://openalex.org/C18949551","wikidata":"https://www.wikidata.org/wiki/Q740578","display_name":"Sequence assembly","level":5,"score":0.43650075793266296},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.4357430338859558},{"id":"https://openalex.org/C113425843","wikidata":"https://www.wikidata.org/wiki/Q5953213","display_name":"Hybrid genome assembly","level":5,"score":0.41760313510894775},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4081254005432129},{"id":"https://openalex.org/C192953774","wikidata":"https://www.wikidata.org/wiki/Q7307127","display_name":"Reference genome","level":4,"score":0.3480072021484375},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3440064489841461},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.25353723764419556},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.231403648853302},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056914","descriptor_name":"Genomic Structural Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056914","descriptor_name":"Genomic Structural Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056914","descriptor_name":"Genomic Structural Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btu714","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu714","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/24/3458/48931794/bioinformatics_30_24_3458.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:25355789","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25355789","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:escholarship.org:ark:/13030/qt81z5h6sp","is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/81z5h6sp","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics, vol 30, iss 24","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4253835","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4253835","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/btu714","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu714","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/30/24/3458/48931794/bioinformatics_30_24_3458.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":[{"id":"https://metadata.un.org/sdg/14","score":0.44999998807907104,"display_name":"Life below water"}],"awards":[{"id":"https://openalex.org/G1883011536","display_name":null,"funder_award_id":"Fellowship","funder_id":"https://openalex.org/F4320306133","funder_display_name":"Burroughs Wellcome Fund"},{"id":"https://openalex.org/G2165548363","display_name":null,"funder_award_id":"Canada","funder_id":"https://openalex.org/F4320334593","funder_display_name":"Natural Sciences and Engineering Research Council of Canada"},{"id":"https://openalex.org/G361500113","display_name":"CAREER:  Algorithms for Next-Generation Genomics","funder_award_id":"1053753","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G4952545190","display_name":null,"funder_award_id":"Fellowship","funder_id":"https://openalex.org/F4320334593","funder_display_name":"Natural Sciences and Engineering Research Council of Canada"},{"id":"https://openalex.org/G6287737109","display_name":null,"funder_award_id":"CCF-1053753","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G6671297155","display_name":null,"funder_award_id":"CAREER","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G6894402473","display_name":null,"funder_award_id":"Fellowship","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G8284766523","display_name":null,"funder_award_id":"(NSERC)","funder_id":"https://openalex.org/F4320334593","funder_display_name":"Natural Sciences and Engineering Research Council of Canada"},{"id":"https://openalex.org/G848032724","display_name":null,"funder_award_id":"Science","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G856527327","display_name":null,"funder_award_id":"Postdoctoral","funder_id":"https://openalex.org/F4320334593","funder_display_name":"Natural Sciences and Engineering Research Council of Canada"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320306133","display_name":"Burroughs Wellcome Fund","ror":"https://ror.org/01d35cw23"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320334593","display_name":"Natural Sciences and Engineering Research Council of Canada","ror":"https://ror.org/01h531d29"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2012328875.pdf","grobid_xml":"https://content.openalex.org/works/W2012328875.grobid-xml"},"referenced_works_count":42,"referenced_works":["https://openalex.org/W1553436411","https://openalex.org/W1591150601","https://openalex.org/W1966936568","https://openalex.org/W2011484895","https://openalex.org/W2022316530","https://openalex.org/W2032247293","https://openalex.org/W2042272913","https://openalex.org/W2065817684","https://openalex.org/W2074548625","https://openalex.org/W2083870688","https://openalex.org/W2095685450","https://openalex.org/W2096218748","https://openalex.org/W2097065948","https://openalex.org/W2102021831","https://openalex.org/W2103011829","https://openalex.org/W2103258359","https://openalex.org/W2103441770","https://openalex.org/W2105510846","https://openalex.org/W2107688500","https://openalex.org/W2108234281","https://openalex.org/W2114310170","https://openalex.org/W2115480698","https://openalex.org/W2116126626","https://openalex.org/W2116387239","https://openalex.org/W2132341951","https://openalex.org/W2133112449","https://openalex.org/W2137759177","https://openalex.org/W2138044148","https://openalex.org/W2139399606","https://openalex.org/W2139993758","https://openalex.org/W2140869203","https://openalex.org/W2142642738","https://openalex.org/W2143307936","https://openalex.org/W2146005104","https://openalex.org/W2150194381","https://openalex.org/W2159640103","https://openalex.org/W2163938152","https://openalex.org/W2169145121","https://openalex.org/W2169508919","https://openalex.org/W2171777347","https://openalex.org/W2284481166","https://openalex.org/W4231539689"],"related_works":["https://openalex.org/W2041376955","https://openalex.org/W2767590279","https://openalex.org/W2944010518","https://openalex.org/W2213265806","https://openalex.org/W2166654698","https://openalex.org/W2079322808","https://openalex.org/W2585341293","https://openalex.org/W3090794301","https://openalex.org/W2208231423","https://openalex.org/W3015277955"],"abstract_inverted_index":{"We":[0,28,49],"present":[1],"MultiBreak-SV,":[2],"an":[3,99],"algorithm":[4],"to":[5,52],"detect":[6],"structural":[7],"variants":[8],"(SVs)":[9],"from":[10,25,35,55,80],"single":[11],"molecule":[12],"sequencing":[13,17,23],"data,":[14,18],"paired":[15,41],"read":[16,42],"or":[19],"a":[20,74,81],"combination":[21],"of":[22,94],"data":[24,34,43,54,79],"different":[26],"platforms.":[27],"demonstrate":[29],"that":[30,61],"combining":[31],"low-coverage":[32],"third-generation":[33],"Pacific":[36],"Biosciences":[37],"(PacBio)":[38],"with":[39,66],"high-coverage":[40],"is":[44],"advantageous":[45],"on":[46,77],"simulated":[47],"chromosomes.":[48],"apply":[50],"MultiBreak-SV":[51],"PacBio":[53,78],"four":[56],"human":[57],"fosmids":[58],"and":[59,69,87],"show":[60],"it":[62],"detects":[63],"known":[64],"SVs":[65],"high":[67],"sensitivity":[68],"specificity.":[70],"Finally,":[71],"we":[72],"perform":[73],"whole-genome":[75],"analysis":[76],"complete":[82],"hydatidiform":[83],"mole":[84],"cell":[85],"line":[86],"predict":[88],"1002":[89],"high-probability":[90],"SVs,":[91],"over":[92],"half":[93],"which":[95],"are":[96],"confirmed":[97],"by":[98],"Illumina-based":[100],"assembly.":[101]},"counts_by_year":[{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":14},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":1}],"updated_date":"2026-04-19T08:26:33.389920","created_date":"2025-10-10T00:00:00"}
