{"id":"https://openalex.org/W2950520427","doi":"https://doi.org/10.1093/bioinformatics/bty104","title":"Integrative DNA copy number detection and genotyping from sequencing and array-based platforms","display_name":"Integrative DNA copy number detection and genotyping from sequencing and array-based platforms","publication_year":2018,"publication_date":"2018-02-22","ids":{"openalex":"https://openalex.org/W2950520427","doi":"https://doi.org/10.1093/bioinformatics/bty104","mag":"2950520427","pmid":"https://pubmed.ncbi.nlm.nih.gov/29992253"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/bty104","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty104","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/34/14/2349/25138329/bty104.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/34/14/2349/25138329/bty104.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5064494025","display_name":"Zilu Zhou","orcid":"https://orcid.org/0000-0002-5554-8490"},"institutions":[{"id":"https://openalex.org/I4210151791","display_name":"Genomics (United Kingdom)","ror":"https://ror.org/053a6xa29","country_code":"GB","type":"company","lineage":["https://openalex.org/I4210151791"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Zilu Zhou","raw_affiliation_strings":["Graduate Group in Genomics and Computational Biology"],"affiliations":[{"raw_affiliation_string":"Graduate Group in Genomics and Computational Biology","institution_ids":["https://openalex.org/I4210151791"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010410409","display_name":"Weixin Wang","orcid":"https://orcid.org/0000-0002-2765-2629"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Weixin Wang","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Perelman School of Medicine"],"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Perelman School of Medicine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038370606","display_name":"Li\u2010San Wang","orcid":"https://orcid.org/0000-0002-3684-0031"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Li-San Wang","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Perelman School of Medicine"],"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Perelman School of Medicine","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5003948440","display_name":"Nancy Ruonan Zhang","orcid":null},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Nancy Ruonan Zhang","raw_affiliation_strings":["Department of Statistics, The Wharton School, University of Pennsylvania, Philadelphia, PA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Statistics, The Wharton School, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5003948440","https://openalex.org/A5064494025"],"corresponding_institution_ids":["https://openalex.org/I4210151791","https://openalex.org/I79576946"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":1.2545,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.82699409,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"34","issue":"14","first_page":"2349","last_page":"2355"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9998000264167786,"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":0.9998000264167786,"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/T10434","display_name":"Chromosomal and Genetic Variations","score":0.9937999844551086,"subfield":{"id":"https://openalex.org/subfields/1110","display_name":"Plant Science"},"field":{"id":"https://openalex.org/fields/11","display_name":"Agricultural and Biological Sciences"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10885","display_name":"Gene expression and cancer classification","score":0.9894000291824341,"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":0.7600246667861938},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.5905935764312744},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.5652801990509033},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5153757929801941},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.44877704977989197},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4395892322063446},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4082641005516052},{"id":"https://openalex.org/keywords/dna","display_name":"DNA","score":0.40112295746803284},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.20650765299797058},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.13975507020950317},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.1364319920539856}],"concepts":[{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.7600246667861938},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5905935764312744},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5652801990509033},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5153757929801941},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44877704977989197},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4395892322063446},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4082641005516052},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.40112295746803284},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.20650765299797058},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13975507020950317},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.1364319920539856}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","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":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","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":"D012984","descriptor_name":"Software","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":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"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":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/bty104","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty104","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/34/14/2349/25138329/bty104.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:29992253","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29992253","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:5589193","is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6041760","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/bty104","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty104","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/34/14/2349/25138329/bty104.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/G1367709103","display_name":null,"funder_award_id":"P50-AG025688","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G1521976140","display_name":null,"funder_award_id":"P30-AG010161","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G1574600507","display_name":null,"funder_award_id":"U01-AG032984","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G1874076786","display_name":null,"funder_award_id":"P50-AG008702","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G2579751519","display_name":null,"funder_award_id":"P30-AG028383","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3342163884","display_name":null,"funder_award_id":"R01-AG041797","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3566643190","display_name":null,"funder_award_id":"P50-AG005136","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3603920477","display_name":null,"funder_award_id":"P50-AG005146","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G418649044","display_name":null,"funder_award_id":"P30-AG013854","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G4407660485","display_name":null,"funder_award_id":"P30-AG012300","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G4609227686","display_name":null,"funder_award_id":"R01-HG006137","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G4635466528","display_name":null,"funder_award_id":"P50-AG005131","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G4813213408","display_name":null,"funder_award_id":"U24-AG041689","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G5118494693","display_name":null,"funder_award_id":"P50-AG016574","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G5977822913","display_name":null,"funder_award_id":"P30-AG008017","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G6148106438","display_name":null,"funder_award_id":"P30-AG010124","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G7047724038","display_name":null,"funder_award_id":"R01NS069719","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G7100212547","display_name":null,"funder_award_id":"U54-AG052427","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G7987142470","display_name":null,"funder_award_id":"U24-AG21886","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G8241502827","display_name":null,"funder_award_id":"UF1-AG047133","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G8949419232","display_name":null,"funder_award_id":"P30-AG010133","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2950520427.pdf","grobid_xml":"https://content.openalex.org/works/W2950520427.grobid-xml"},"referenced_works_count":20,"referenced_works":["https://openalex.org/W1484187172","https://openalex.org/W1966938977","https://openalex.org/W2006131916","https://openalex.org/W2012151892","https://openalex.org/W2018604728","https://openalex.org/W2022385074","https://openalex.org/W2073062083","https://openalex.org/W2084708009","https://openalex.org/W2090144921","https://openalex.org/W2096192437","https://openalex.org/W2102941013","https://openalex.org/W2107126369","https://openalex.org/W2108234281","https://openalex.org/W2114034064","https://openalex.org/W2149681218","https://openalex.org/W2150506261","https://openalex.org/W2153065499","https://openalex.org/W2155707112","https://openalex.org/W2160444236","https://openalex.org/W2169964199"],"related_works":["https://openalex.org/W2378369506","https://openalex.org/W2353370357","https://openalex.org/W2806032235","https://openalex.org/W2755824586","https://openalex.org/W4280553679","https://openalex.org/W4212927541","https://openalex.org/W2975902501","https://openalex.org/W4248994802","https://openalex.org/W2160549327","https://openalex.org/W3021066823"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2}],"updated_date":"2025-11-23T05:10:03.516525","created_date":"2025-10-10T00:00:00"}
