{"id":"https://openalex.org/W2210696478","doi":"https://doi.org/10.1017/s0016672315000191","title":"Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization","display_name":"Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W2210696478","doi":"https://doi.org/10.1017/s0016672315000191","mag":"2210696478","pmid":"https://pubmed.ncbi.nlm.nih.gov/26390810","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6863650"},"language":"en","primary_location":{"id":"doi:10.1017/s0016672315000191","doi":"https://doi.org/10.1017/s0016672315000191","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s0016672315000191","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/0DA66891B84890BFDF7627168E59E4CC/S0016672315000191a.pdf/div-class-title-global-patterns-of-large-copy-number-variations-in-the-human-genome-reveal-complexity-in-chromosome-organization-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics Research","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/0DA66891B84890BFDF7627168E59E4CC/S0016672315000191a.pdf/div-class-title-global-patterns-of-large-copy-number-variations-in-the-human-genome-reveal-complexity-in-chromosome-organization-div.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027438092","display_name":"Avinash M. Veerappa","orcid":"https://orcid.org/0000-0002-0204-714X","observed_orcids":["https://orcid.org/0000-0002-0204-714X"]},"institutions":[{"id":"https://openalex.org/I204743663","display_name":"University of Mysore","ror":"https://ror.org/012bxv356","country_code":"IN","type":"education","lineage":["https://openalex.org/I204743663"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"AVINASH M. VEERAPPA","raw_affiliation_strings":["Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India","institution_ids":["https://openalex.org/I204743663"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071246542","display_name":"Raviraj V. Suresh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204743663","display_name":"University of Mysore","ror":"https://ror.org/012bxv356","country_code":"IN","type":"education","lineage":["https://openalex.org/I204743663"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"RAVIRAJ V. SURESH","raw_affiliation_strings":["Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India","institution_ids":["https://openalex.org/I204743663"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035646450","display_name":"Sangeetha Vishweswaraiah","orcid":"https://orcid.org/0000-0001-5681-5143","observed_orcids":["https://orcid.org/0000-0001-5681-5143"]},"institutions":[{"id":"https://openalex.org/I204743663","display_name":"University of Mysore","ror":"https://ror.org/012bxv356","country_code":"IN","type":"education","lineage":["https://openalex.org/I204743663"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"SANGEETHA VISHWESWARAIAH","raw_affiliation_strings":["Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India","institution_ids":["https://openalex.org/I204743663"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016894045","display_name":"Kusuma Lingaiah","orcid":"https://orcid.org/0000-0002-2442-9755","observed_orcids":["https://orcid.org/0000-0002-2442-9755"]},"institutions":[{"id":"https://openalex.org/I204743663","display_name":"University of Mysore","ror":"https://ror.org/012bxv356","country_code":"IN","type":"education","lineage":["https://openalex.org/I204743663"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"KUSUMA LINGAIAH","raw_affiliation_strings":["Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India","institution_ids":["https://openalex.org/I204743663"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032591349","display_name":"Megha N. Murthy","orcid":"https://orcid.org/0000-0003-4742-9456","observed_orcids":["https://orcid.org/0000-0003-4742-9456"]},"institutions":[{"id":"https://openalex.org/I204743663","display_name":"University of Mysore","ror":"https://ror.org/012bxv356","country_code":"IN","type":"education","lineage":["https://openalex.org/I204743663"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"MEGHA MURTHY","raw_affiliation_strings":["Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India","institution_ids":["https://openalex.org/I204743663"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005241020","display_name":"Dinesh Sosalagere Manjegowda","orcid":"https://orcid.org/0000-0001-8915-3983","observed_orcids":["https://orcid.org/0000-0001-8915-3983"]},"institutions":[{"id":"https://openalex.org/I1333540553","display_name":"Nitte University","ror":"https://ror.org/029nydt37","country_code":"IN","type":"education","lineage":["https://openalex.org/I1333540553"]},{"id":"https://openalex.org/I60324483","display_name":"K S Hegde Medical Academy","ror":"https://ror.org/02p74z057","country_code":"IN","type":"education","lineage":["https://openalex.org/I60324483"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"DINESH S. MANJEGOWDA","raw_affiliation_strings":["Nitte University Centre for Science Education & Research, K. S. Hegde Medical Academy, Nitte, University, Deralakatte, Mangalore-18, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nitte University Centre for Science Education & Research, K. S. Hegde Medical Academy, Nitte, University, Deralakatte, Mangalore-18, Karnataka, India","institution_ids":["https://openalex.org/I1333540553","https://openalex.org/I60324483"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051686448","display_name":"Prakash Padakannaya","orcid":"https://orcid.org/0000-0002-7923-5587","observed_orcids":["https://orcid.org/0000-0002-7923-5587"]},"institutions":[{"id":"https://openalex.org/I204743663","display_name":"University of Mysore","ror":"https://ror.org/012bxv356","country_code":"IN","type":"education","lineage":["https://openalex.org/I204743663"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"PRAKASH PADAKANNAYA","raw_affiliation_strings":["Department of Studies in Psychology, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Studies in Psychology, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India","institution_ids":["https://openalex.org/I204743663"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101489871","display_name":"Nallur Basappa Ramachandra","orcid":"https://orcid.org/0000-0002-7679-1617","observed_orcids":["https://orcid.org/0000-0002-7679-1617"]},"institutions":[{"id":"https://openalex.org/I204743663","display_name":"University of Mysore","ror":"https://ror.org/012bxv356","country_code":"IN","type":"education","lineage":["https://openalex.org/I204743663"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"NALLUR B. RAMACHANDRA","raw_affiliation_strings":["Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genomics Lab, Department of Studies in Genetics & Genomics, University of Mysore, Manasagangotri, Mysore-06, Karnataka, India","institution_ids":["https://openalex.org/I204743663"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5101489871"],"corresponding_institution_ids":["https://openalex.org/I204743663"],"apc_list":{"value":2100,"currency":"USD","value_usd":2100},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"97","issue":null,"first_page":"e18","last_page":"e18"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9990000128746033,"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":0.9990000128746033,"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/T13664","display_name":"Genome Rearrangement Algorithms","score":0.0005000000237487257,"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":9.999999747378752e-05,"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/copy-number-variation","display_name":"copy number variation","score":0.9549999833106995},{"id":"https://openalex.org/keywords/human-genome-organization","display_name":"human genome organization","score":0.7289999723434448}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8971724510192871},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6902339458465576},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6858652234077454},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.6287925839424133},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.5873618721961975},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.5787500143051147},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5334439873695374},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.507481038570404},{"id":"https://openalex.org/C163096569","wikidata":"https://www.wikidata.org/wiki/Q16966366","display_name":"Gene density","level":5,"score":0.4458779990673065},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.423734188079834},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3190639913082123},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.26760756969451904},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.09467366337776184},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.06916725635528564},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","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":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014943","descriptor_name":"Global Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"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":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1017/s0016672315000191","doi":"https://doi.org/10.1017/s0016672315000191","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s0016672315000191","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/0DA66891B84890BFDF7627168E59E4CC/S0016672315000191a.pdf/div-class-title-global-patterns-of-large-copy-number-variations-in-the-human-genome-reveal-complexity-in-chromosome-organization-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics Research","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5835315","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6863650","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,"listed_in":[],"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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:26390810","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26390810","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,"listed_in":[],"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":"Genetics research","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6863650","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6863650/","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,"listed_in":[],"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":"Genet Res (Camb)","raw_type":"Text"},{"id":"pmh:oai:eprints.uni-mysore.ac.in:18678","doi":null,"is_oa":false,"landing_page_url":"http://eprints.uni-mysore.ac.in/18678/1/S0016672315000191a.pdf","pdf_url":"http://eprints.uni-mysore.ac.in/18678/1/S0016672315000191a.pdf","source":{"id":"https://openalex.org/S4306400737","display_name":"MyPrints@UOM (Mysore University Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I204743663","host_organization_name":"University of Mysore","host_organization_lineage":["https://openalex.org/I204743663"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:eprints.uni-mysore.ac.in:3233","doi":null,"is_oa":false,"landing_page_url":"http://eprints.uni-mysore.ac.in/3233/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400737","display_name":"MyPrints@UOM (Mysore University Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I204743663","host_organization_name":"University of Mysore","host_organization_lineage":["https://openalex.org/I204743663"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1017/s0016672315000191","doi":"https://doi.org/10.1017/s0016672315000191","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s0016672315000191","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/0DA66891B84890BFDF7627168E59E4CC/S0016672315000191a.pdf/div-class-title-global-patterns-of-large-copy-number-variations-in-the-human-genome-reveal-complexity-in-chromosome-organization-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics Research","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G6259943904","display_name":null,"funder_award_id":"SR/SO/HS-103/2007","funder_id":"https://openalex.org/F4320320719","funder_display_name":"Department of Science and Technology, Ministry of Science and Technology, India"},{"id":"https://openalex.org/G6748950149","display_name":null,"funder_award_id":"IF120351","funder_id":"https://openalex.org/F4320320719","funder_display_name":"Department of Science and Technology, Ministry of Science and Technology, India"}],"funders":[{"id":"https://openalex.org/F4320320719","display_name":"Department of Science and Technology, Ministry of Science and Technology, India","ror":"https://ror.org/0101xrq71"},{"id":"https://openalex.org/F4320328621","display_name":"University of Mysore","ror":"https://ror.org/012bxv356"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2210696478.pdf","grobid_xml":"https://content.openalex.org/works/W2210696478.grobid-xml"},"referenced_works_count":45,"referenced_works":["https://openalex.org/W1517921658","https://openalex.org/W1518792000","https://openalex.org/W1963847019","https://openalex.org/W1967057836","https://openalex.org/W1968557064","https://openalex.org/W1971321176","https://openalex.org/W1973502710","https://openalex.org/W1988780263","https://openalex.org/W1998267090","https://openalex.org/W2004278189","https://openalex.org/W2010164205","https://openalex.org/W2030710966","https://openalex.org/W2031922944","https://openalex.org/W2032397511","https://openalex.org/W2040282747","https://openalex.org/W2044110911","https://openalex.org/W2047366062","https://openalex.org/W2050087378","https://openalex.org/W2053279604","https://openalex.org/W2054214931","https://openalex.org/W2055386916","https://openalex.org/W2058401000","https://openalex.org/W2064592720","https://openalex.org/W2066384819","https://openalex.org/W2071870106","https://openalex.org/W2077402848","https://openalex.org/W2088628764","https://openalex.org/W2097683893","https://openalex.org/W2110101611","https://openalex.org/W2112482499","https://openalex.org/W2118660857","https://openalex.org/W2119907069","https://openalex.org/W2124337127","https://openalex.org/W2143845994","https://openalex.org/W2145709699","https://openalex.org/W2146888786","https://openalex.org/W2155677754","https://openalex.org/W2157752701","https://openalex.org/W2161641617","https://openalex.org/W2161907308","https://openalex.org/W2163809592","https://openalex.org/W2163938152","https://openalex.org/W2171777347","https://openalex.org/W2885727518","https://openalex.org/W6977321681"],"related_works":["https://openalex.org/W1966472517","https://openalex.org/W7096229842","https://openalex.org/W7098470675","https://openalex.org/W7096447167","https://openalex.org/W2155707112","https://openalex.org/W765665904","https://openalex.org/W2129637418","https://openalex.org/W2087498126","https://openalex.org/W4235520820","https://openalex.org/W1978784422"],"abstract_inverted_index":{"Global":[0],"patterns":[1,160],"of":[2,15,43,53,64,102,110,140,199],"copy":[3,147],"number":[4,148],"variations":[5],"(CNVs)":[6],"in":[7,56,161,172,189],"chromosomes":[8,84,190,209],"are":[9,176],"required":[10],"to":[11,97,134,180],"understand":[12],"the":[13,27,61,98,103,167,173,184,197],"dynamics":[14,202],"genome":[16,204],"organization":[17,205],"and":[18,35,85,92,108,136,163,183,187,206,210],"complexity.":[19],"For":[20],"this":[21],"study,":[22],"analysis":[23],"was":[24,113,120,129],"performed":[25],"using":[26],"Affymetrix":[28],"Genome-Wide":[29],"Human":[30],"SNP":[31],"Array":[32],"6.0":[33],"chip":[34],"CytoScan":[36],"High-Density":[37],"arrays.":[38],"We":[39],"identified":[40,81],"a":[41,51,69],"total":[42,139],"44":[44],"109":[45],"CNVs":[46,55,79],"from":[47,145],"1715":[48],"genomes":[49],"with":[50],"mean":[52],"25":[54],"an":[57],"individual,":[58],"which":[59],"established":[60],"first":[62],"drafts":[63],"population-specific":[65],"CNV":[66,90,94,100,118,126,143,158,170,185],"maps":[67],"providing":[68],"rationale":[70],"for":[71,117,131],"prioritizing":[72],"chromosomal":[73,111],"regions.":[74],"About":[75],"19":[76],"905":[77],"ancient":[78],"were":[80,154],"across":[82,208],"all":[83],"populations":[86],"at":[87],"varying":[88],"frequencies.":[89],"count,":[91],"sometimes":[93],"size,":[95],"contributed":[96],"bulk":[99],"size":[101],"chromosome.":[104],"Population":[105,156],"specific":[106,157],"lengthening":[107],"shortening":[109],"length":[112,192],"observed.":[114],"Sex":[115],"bias":[116],"presence":[119],"largely":[121],"dependent":[122],"on":[123,203],"ethnicity.":[124],"Lower":[125],"inheritance":[127],"rate":[128],"observed":[130],"India,":[132],"compared":[133,179],"YRI":[135],"CEU.":[137],"A":[138],"33":[141],"candidate":[142],"hotspots":[144],"5382":[146],"(CN)":[149],"variable":[150],"region":[151],"(CNVR)":[152],"clusters":[153],"identified.":[155],"distribution":[159,188],"p":[162,174],"q":[164],"arms":[165],"disturbed":[166],"assumption":[168],"that":[169],"counts":[171],"arm":[175],"less":[177],"common":[178],"long":[181],"arms,":[182],"occurrence":[186],"is":[191],"independent.":[193],"This":[194],"study":[195],"unraveled":[196],"force":[198],"independent":[200],"evolutionary":[201],"complexity":[207],"populations.":[211]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}