{"id":"https://openalex.org/W4220734247","doi":"https://doi.org/10.1371/journal.pcbi.1009940","title":"SavvyCNV: Genome-wide CNV calling from off-target\u00a0reads","display_name":"SavvyCNV: Genome-wide CNV calling from off-target\u00a0reads","publication_year":2022,"publication_date":"2022-03-16","ids":{"openalex":"https://openalex.org/W4220734247","doi":"https://doi.org/10.1371/journal.pcbi.1009940","pmid":"https://pubmed.ncbi.nlm.nih.gov/35294448"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1009940","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1009940","pdf_url":null,"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://doi.org/10.1371/journal.pcbi.1009940","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5041933865","display_name":"Thomas W. Laver","orcid":"https://orcid.org/0000-0001-6399-0089"},"institutions":[{"id":"https://openalex.org/I23923803","display_name":"University of Exeter","ror":"https://ror.org/03yghzc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I23923803"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Thomas W. Laver","raw_affiliation_strings":["Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0001-6399-0089","affiliations":[{"raw_affiliation_string":"Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom","institution_ids":["https://openalex.org/I23923803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077333074","display_name":"Elisa De Franco","orcid":"https://orcid.org/0000-0002-1437-7891"},"institutions":[{"id":"https://openalex.org/I23923803","display_name":"University of Exeter","ror":"https://ror.org/03yghzc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I23923803"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Elisa De Franco","raw_affiliation_strings":["Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-1437-7891","affiliations":[{"raw_affiliation_string":"Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom","institution_ids":["https://openalex.org/I23923803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059872144","display_name":"Matthew B. Johnson","orcid":"https://orcid.org/0000-0002-6519-6687"},"institutions":[{"id":"https://openalex.org/I23923803","display_name":"University of Exeter","ror":"https://ror.org/03yghzc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I23923803"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Matthew B. Johnson","raw_affiliation_strings":["Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-6519-6687","affiliations":[{"raw_affiliation_string":"Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom","institution_ids":["https://openalex.org/I23923803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090739125","display_name":"Kashyap Patel","orcid":"https://orcid.org/0000-0002-9240-8104"},"institutions":[{"id":"https://openalex.org/I23923803","display_name":"University of Exeter","ror":"https://ror.org/03yghzc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I23923803"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kashyap A. Patel","raw_affiliation_strings":["Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-9240-8104","affiliations":[{"raw_affiliation_string":"Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom","institution_ids":["https://openalex.org/I23923803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084653587","display_name":"Sian Ellard","orcid":"https://orcid.org/0000-0002-7620-5526"},"institutions":[{"id":"https://openalex.org/I23923803","display_name":"University of Exeter","ror":"https://ror.org/03yghzc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I23923803"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Sian Ellard","raw_affiliation_strings":["Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-7620-5526","affiliations":[{"raw_affiliation_string":"Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom","institution_ids":["https://openalex.org/I23923803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106364230","display_name":"Michael N. Weedon","orcid":"https://orcid.org/0000-0002-6174-6135"},"institutions":[{"id":"https://openalex.org/I23923803","display_name":"University of Exeter","ror":"https://ror.org/03yghzc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I23923803"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael N. Weedon","raw_affiliation_strings":["Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-6174-6135","affiliations":[{"raw_affiliation_string":"Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom","institution_ids":["https://openalex.org/I23923803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019195988","display_name":"Sarah E. Flanagan","orcid":"https://orcid.org/0000-0002-8670-6340"},"institutions":[{"id":"https://openalex.org/I23923803","display_name":"University of Exeter","ror":"https://ror.org/03yghzc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I23923803"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Sarah E. Flanagan","raw_affiliation_strings":["Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-8670-6340","affiliations":[{"raw_affiliation_string":"Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom","institution_ids":["https://openalex.org/I23923803"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5039036634","display_name":"Matthew N. Wakeling","orcid":"https://orcid.org/0000-0002-6542-9241"},"institutions":[{"id":"https://openalex.org/I23923803","display_name":"University of Exeter","ror":"https://ror.org/03yghzc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I23923803"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Matthew N. Wakeling","raw_affiliation_strings":["Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-6542-9241","affiliations":[{"raw_affiliation_string":"Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom","institution_ids":["https://openalex.org/I23923803"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5039036634"],"corresponding_institution_ids":["https://openalex.org/I23923803"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":5.4475,"has_fulltext":false,"cited_by_count":38,"citation_normalized_percentile":{"value":0.96166837,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"18","issue":"3","first_page":"e1009940","last_page":"e1009940"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9995999932289124,"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":0.9995999932289124,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.9993000030517578,"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/T11482","display_name":"RNA modifications and cancer","score":0.9993000030517578,"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/computational-biology","display_name":"Computational biology","score":0.6018111109733582},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.5760431885719299},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5236408710479736},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5214540362358093},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4933599531650543},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.0983167290687561}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6018111109733582},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5760431885719299},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5236408710479736},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5214540362358093},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4933599531650543},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0983167290687561}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome 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":"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":"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":"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":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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},{"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":"D060885","descriptor_name":"Multiplex Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060885","descriptor_name":"Multiplex Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060885","descriptor_name":"Multiplex Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060885","descriptor_name":"Multiplex Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060885","descriptor_name":"Multiplex Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1371/journal.pcbi.1009940","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1009940","pdf_url":null,"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:35294448","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35294448","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:oai:doaj.org/article:c7af70826c244fd582a17b691ca455e1","is_oa":true,"landing_page_url":"https://doaj.org/article/c7af70826c244fd582a17b691ca455e1","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","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 18, Iss 3, p e1009940 (2022)","raw_type":"article"},{"id":"pmh:oai:ore.exeter.ac.uk:10871/129107","is_oa":true,"landing_page_url":"http://hdl.handle.net/10871/129107","pdf_url":null,"source":{"id":"https://openalex.org/S4306401998","display_name":"Open Research Exeter (University of Exeter)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I23923803","host_organization_name":"University of Exeter","host_organization_lineage":["https://openalex.org/I23923803"],"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":null,"raw_type":"Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8959187","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8959187","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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.1009940","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1009940","pdf_url":null,"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":[],"awards":[{"id":"https://openalex.org/G4559153192","display_name":null,"funder_award_id":"MR/M008924/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G8147803638","display_name":"Accelerated discovery of functional non-coding genomic variation using single molecule real-time (SMRT) sequencing.","funder_award_id":"MR/M008924/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320320065","display_name":"Diabetes UK","ror":"https://ror.org/050rgn017"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320336061","display_name":"Research England","ror":"https://ror.org/02wxr8x18"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1525414981","https://openalex.org/W1551136355","https://openalex.org/W1704586464","https://openalex.org/W1967753627","https://openalex.org/W1971308324","https://openalex.org/W1971321176","https://openalex.org/W2004428333","https://openalex.org/W2006124071","https://openalex.org/W2007100755","https://openalex.org/W2008878109","https://openalex.org/W2089708180","https://openalex.org/W2103441770","https://openalex.org/W2114777193","https://openalex.org/W2115437482","https://openalex.org/W2119180969","https://openalex.org/W2149387942","https://openalex.org/W2163114225","https://openalex.org/W2166572848","https://openalex.org/W2220222451","https://openalex.org/W2337209831","https://openalex.org/W2521914832","https://openalex.org/W2551190949","https://openalex.org/W2619543228","https://openalex.org/W2757821575","https://openalex.org/W2952509678","https://openalex.org/W3194522581","https://openalex.org/W4388722062","https://openalex.org/W7020658563"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W2082860237","https://openalex.org/W2119695867","https://openalex.org/W2130076355","https://openalex.org/W1990804418","https://openalex.org/W1993764875","https://openalex.org/W2046158694","https://openalex.org/W2788277189","https://openalex.org/W2013243191","https://openalex.org/W1971568933"],"abstract_inverted_index":{"Identifying":[0],"copy":[1],"number":[2],"variants":[3],"(CNVs)":[4],"can":[5,183],"provide":[6,11],"diagnoses":[7],"to":[8,52,58,80,85,145,156],"patients":[9],"and":[10,18,22,29,48,65,107,119,138,153,190,196],"important":[12],"biological":[13],"insights":[14],"into":[15],"human":[16],"health":[17],"disease.":[19],"Current":[20],"exome":[21,47,64,139,191],"targeted":[23,49,66,71,136,151,188],"sequencing":[24,50,61,67,105],"approaches":[25],"cannot":[26],"detect":[27],"clinically":[28],"biologically-relevant":[30],"CNVs":[31,55,87,115,128,178,185],"outside":[32,69],"their":[33],"target":[34],"area.":[35],"We":[36,73,91,141],"present":[37],"SavvyCNV,":[38,79],"a":[39,76,150],"tool":[40,167],"which":[41],"uses":[42],"off-target":[43,131,180],"read":[44],"data":[45,51,106],"from":[46,63,103,135,179,187],"call":[53,86,157,184],"germline":[54],"genome-wide.":[56],"Up":[57],"70%":[59],"of":[60,165,199],"reads":[62,134],"fall":[68],"the":[70,89,122,163,169,194],"regions.":[72],"have":[74],"developed":[75],"new":[77],"tool,":[78],"exploit":[81],"this":[82,166],"'free":[83],"data'":[84],"across":[88],"genome.":[90],"benchmarked":[92],"SavvyCNV":[93,113,144,172,202],"against":[94],"five":[95,123],"state-of-the-art":[96],"CNV":[97],"callers":[98],"using":[99,130,149],"truth":[100],"sets":[101],"generated":[102],"genome":[104],"Multiplex":[108],"Ligation-dependent":[109],"Probe":[110],"Amplification":[111],"assays.":[112],"called":[114],"with":[116],"high":[117],"precision":[118],"recall,":[120],"outperforming":[121],"other":[124],"tools":[125,175],"at":[126,206],"calling":[127,177],"genome-wide,":[129],"or":[132],"on-target":[133],"panel":[137,152,189],"sequencing.":[140],"then":[142],"applied":[143],"clinical":[146],"samples":[147],"sequenced":[148],"were":[154],"able":[155],"previously":[158],"undetected":[159],"clinically-relevant":[160],"CNVs,":[161],"highlighting":[162],"utility":[164,195],"within":[168],"diagnostic":[170,197],"setting.":[171],"outperforms":[173],"existing":[174],"for":[176],"reads.":[181],"It":[182],"genome-wide":[186],"data,":[192],"increasing":[193],"yield":[198],"these":[200],"tests.":[201],"is":[203],"freely":[204],"available":[205],"https://github.com/rdemolgen/SavvySuite.":[207]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1}],"updated_date":"2026-01-13T01:12:25.745995","created_date":"2025-10-10T00:00:00"}