{"id":"https://openalex.org/W2137518296","doi":"https://doi.org/10.1093/bioinformatics/btn016","title":"Estimation and assessment of raw copy numbers at the single locus level","display_name":"Estimation and assessment of raw copy numbers at the single locus level","publication_year":2008,"publication_date":"2008-01-19","ids":{"openalex":"https://openalex.org/W2137518296","doi":"https://doi.org/10.1093/bioinformatics/btn016","mag":"2137518296","pmid":"https://pubmed.ncbi.nlm.nih.gov/18204055"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btn016","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btn016","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/24/6/759/49048336/bioinformatics_24_6_759.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","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":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/24/6/759/49048336/bioinformatics_24_6_759.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5015282653","display_name":"Henrik Bengtsson","orcid":"https://orcid.org/0000-0002-7579-5165"},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I196021976","display_name":"Walter and Eliza Hall Institute of Medical Research","ror":"https://ror.org/01b6kha49","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I196021976"]},{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["AU","US"],"is_corresponding":true,"raw_author_name":"H. Bengtsson","raw_affiliation_strings":["1 Department of Statistics, University of California, Berkeley, USA, 2Department of Biostatistics, Johns Hopkins University, Baltimore, USA and 3Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research, Parkville, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Statistics, University of California, Berkeley, USA, 2Department of Biostatistics, Johns Hopkins University, Baltimore, USA and 3Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research, Parkville, Australia","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I196021976","https://openalex.org/I95457486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054612687","display_name":"Rafael A. Irizarry","orcid":"https://orcid.org/0000-0002-3944-4309"},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I196021976","display_name":"Walter and Eliza Hall Institute of Medical Research","ror":"https://ror.org/01b6kha49","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I196021976"]},{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["AU","US"],"is_corresponding":false,"raw_author_name":"R. Irizarry","raw_affiliation_strings":["1 Department of Statistics, University of California, Berkeley, USA, 2Department of Biostatistics, Johns Hopkins University, Baltimore, USA and 3Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research, Parkville, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Statistics, University of California, Berkeley, USA, 2Department of Biostatistics, Johns Hopkins University, Baltimore, USA and 3Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research, Parkville, Australia","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I196021976","https://openalex.org/I95457486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014248896","display_name":"Benilton S. Carvalho","orcid":"https://orcid.org/0000-0001-5122-5646"},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I196021976","display_name":"Walter and Eliza Hall Institute of Medical Research","ror":"https://ror.org/01b6kha49","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I196021976"]},{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["AU","US"],"is_corresponding":false,"raw_author_name":"B. Carvalho","raw_affiliation_strings":["1 Department of Statistics, University of California, Berkeley, USA, 2Department of Biostatistics, Johns Hopkins University, Baltimore, USA and 3Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research, Parkville, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Statistics, University of California, Berkeley, USA, 2Department of Biostatistics, Johns Hopkins University, Baltimore, USA and 3Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research, Parkville, Australia","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I196021976","https://openalex.org/I95457486"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001135422","display_name":"Terence P. Speed","orcid":"https://orcid.org/0000-0002-5403-7998"},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I196021976","display_name":"Walter and Eliza Hall Institute of Medical Research","ror":"https://ror.org/01b6kha49","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I196021976"]},{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["AU","US"],"is_corresponding":false,"raw_author_name":"T. P. Speed","raw_affiliation_strings":["1 Department of Statistics, University of California, Berkeley, USA, 2Department of Biostatistics, Johns Hopkins University, Baltimore, USA and 3Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research, Parkville, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Statistics, University of California, Berkeley, USA, 2Department of Biostatistics, Johns Hopkins University, Baltimore, USA and 3Bioinformatics Division, Walter & Eliza Hall Institute of Medical Research, Parkville, Australia","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I196021976","https://openalex.org/I95457486"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5015282653"],"corresponding_institution_ids":["https://openalex.org/I145311948","https://openalex.org/I196021976","https://openalex.org/I95457486"],"apc_list":{"value":3989,"currency":"USD","value_usd":3989},"apc_paid":{"value":3989,"currency":"USD","value_usd":3989},"fwci":12.5969,"has_fulltext":true,"cited_by_count":146,"citation_normalized_percentile":{"value":0.98977256,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"24","issue":"6","first_page":"759","last_page":"767"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9836999773979187,"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":0.9836999773979187,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.003599999938160181,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.00139999995008111,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/locus","display_name":"Locus (genetics)","score":0.7200769186019897},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.5944710373878479},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5727953314781189},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5280267596244812},{"id":"https://openalex.org/keywords/international-hapmap-project","display_name":"International HapMap Project","score":0.5240093469619751},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5096936225891113},{"id":"https://openalex.org/keywords/allele","display_name":"Allele","score":0.468948096036911},{"id":"https://openalex.org/keywords/preprocessor","display_name":"Preprocessor","score":0.4374949038028717},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.4318123161792755},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.41420841217041016},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.3971257507801056},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.17724481225013733},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.16881197690963745}],"concepts":[{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7200769186019897},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5944710373878479},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5727953314781189},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5280267596244812},{"id":"https://openalex.org/C177580304","wikidata":"https://www.wikidata.org/wiki/Q1147298","display_name":"International HapMap Project","level":5,"score":0.5240093469619751},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5096936225891113},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.468948096036911},{"id":"https://openalex.org/C34736171","wikidata":"https://www.wikidata.org/wiki/Q918333","display_name":"Preprocessor","level":2,"score":0.4374949038028717},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4318123161792755},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.41420841217041016},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3971257507801056},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.17724481225013733},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16881197690963745}],"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":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010363","descriptor_name":"Pattern Recognition, Automated","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D010363","descriptor_name":"Pattern Recognition, Automated","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D010363","descriptor_name":"Pattern Recognition, Automated","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D010363","descriptor_name":"Pattern Recognition, Automated","qualifier_ui":"Q000379","qualifier_name":"methods","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":"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":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btn016","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btn016","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/24/6/759/49048336/bioinformatics_24_6_759.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:18204055","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18204055","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":"Evaluation Study"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.605.9275","is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.605.9275","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://bioinformatics.oxfordjournals.org/content/early/2008/01/19/bioinformatics.btn016.full.pdf","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btn016","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btn016","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/24/6/759/49048336/bioinformatics_24_6_759.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.4300000071525574,"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals"}],"awards":[{"id":"https://openalex.org/G1719811940","display_name":null,"funder_award_id":"T32 GM 074906","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G1733993138","display_name":null,"funder_award_id":"R01GM083084","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G664420873","display_name":null,"funder_award_id":"R01 RR 021967","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2137518296.pdf","grobid_xml":"https://content.openalex.org/works/W2137518296.grobid-xml"},"referenced_works_count":18,"referenced_works":["https://openalex.org/W1557844666","https://openalex.org/W1718441222","https://openalex.org/W1763445962","https://openalex.org/W1864711008","https://openalex.org/W2038437697","https://openalex.org/W2054193808","https://openalex.org/W2058401000","https://openalex.org/W2108097749","https://openalex.org/W2109972881","https://openalex.org/W2115521447","https://openalex.org/W2116753165","https://openalex.org/W2120865735","https://openalex.org/W2124873881","https://openalex.org/W2146948473","https://openalex.org/W2151595196","https://openalex.org/W2155707112","https://openalex.org/W2217809488","https://openalex.org/W2582743722"],"related_works":["https://openalex.org/W2164855536","https://openalex.org/W2093272809","https://openalex.org/W1997352593","https://openalex.org/W2143489661","https://openalex.org/W2013739566","https://openalex.org/W2070581548","https://openalex.org/W4281711902","https://openalex.org/W3206555169","https://openalex.org/W3016573916","https://openalex.org/W1978000554"],"abstract_inverted_index":{"MOTIVATION:":[0],"Although":[1],"copy-number":[2,64],"aberrations":[3,20,47],"are":[4,24,86],"known":[5],"to":[6,8,26,68,89,113,151,157,209],"contribute":[7],"the":[9,12,154,159,177],"diversity":[10],"of":[11,32,162,176,230,245],"human":[13],"DNA":[14],"and":[15,21,44,79,138,196],"cause":[16],"various":[17],"diseases,":[18],"many":[19],"their":[22],"phenotypes":[23],"still":[25],"be":[27,248],"explored.":[28],"The":[29,59,182,213,223],"recent":[30],"development":[31],"single-nucleotide":[33],"polymorphism":[34],"(SNP)":[35],"arrays":[36,246],"provides":[37],"researchers":[38],"with":[39,76,217],"tools":[40],"for":[41,97,115,128,171],"calling":[42],"genotypes":[43],"identifying":[45],"chromosomal":[46],"at":[48,72,203],"an":[49,126,231],"order-of-magnitude":[50],"greater":[51],"resolution":[52,75,206],"than":[53],"possible":[54],"a":[55,73,94,108,204,210,240],"few":[56],"years":[57],"ago.":[58],"fundamental":[60],"problem":[61],"in":[62],"array-based":[63],"(CN)":[65],"analysis":[66],"is":[67,167,179,184,215,226,239],"obtain":[69],"CN":[70,146,163],"estimates":[71],"single-locus":[74,205],"high":[77],"accuracy":[78],"precision":[80],"such":[81,132],"that":[82,114],"downstream":[83],"segmentation":[84],"methods":[85],"more":[87],"likely":[88],"succeed.":[90],"RESULTS:":[91],"We":[92,120,142],"propose":[93],"preprocessing":[95],"method":[96,225],"estimating":[98],"raw":[99,190],"CNs":[100,191],"from":[101],"Affymetrix":[102],"SNP":[103],"arrays.":[104,119],"Its":[105],"core":[106],"utilizes":[107],"multichip":[109],"probe-level":[110,155],"model":[111,123,156,178],"analogous":[112],"high-density":[116],"oligonucleotide":[117],"expression":[118],"extend":[121],"this":[122],"by":[124,169,186],"adding":[125],"adjustment":[127],"sequence-specific":[129],"allelic":[130],"imbalances":[131],"as":[133,228],"cross-hybridization":[134],"between":[135,194],"allele":[136,139],"A":[137],"B":[140],"probes.":[141],"focus":[143],"on":[144,199],"total":[145],"estimates,":[147],"which":[148],"allows":[149],"us":[150],"further":[152],"constrain":[153],"increase":[158],"signal-to-noise":[160],"ratio":[161],"estimates.":[164],"Further":[165],"improvement":[166],"obtained":[168],"controlling":[170],"PCR":[172],"effects.":[173],"Each":[174],"part":[175,229],"fitted":[180],"robustly.":[181],"performance":[183],"assessed":[185],"quantifying":[187],"how":[188],"well":[189],"alone":[192],"differentiate":[193],"one":[195],"two":[197],"copies":[198],"Chromosome":[200],"X":[201],"(ChrX)":[202],"(27kb)":[207],"up":[208],"200kb":[211],"resolution.":[212],"evaluation":[214],"done":[216],"publicly":[218],"available":[219,227],"HapMap":[220],"data.":[221],"AVAILABILITY:":[222],"proposed":[224],"open-source":[232],"R":[233],"package":[234],"named":[235],"aroma.affymetrix.":[236],"Because":[237],"it":[238],"bounded-memory":[241],"algorithm,":[242],"any":[243],"number":[244],"can":[247],"analyzed.":[249]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":11},{"year":2013,"cited_by_count":9},{"year":2012,"cited_by_count":22}],"updated_date":"2026-08-26T07:47:46.906454","created_date":"2025-10-10T00:00:00"}