{"id":"https://openalex.org/W2140888103","doi":"https://doi.org/10.1093/bioinformatics/bts535","title":"Statistical challenges associated with detecting copy number variations with next-generation sequencing","display_name":"Statistical challenges associated with detecting copy number variations with next-generation sequencing","publication_year":2012,"publication_date":"2012-08-31","ids":{"openalex":"https://openalex.org/W2140888103","doi":"https://doi.org/10.1093/bioinformatics/bts535","mag":"2140888103","pmid":"https://pubmed.ncbi.nlm.nih.gov/22942022"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/bts535","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bts535","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/28/21/2711/16910402/bts535.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":"review","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/28/21/2711/16910402/bts535.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5024911069","display_name":"Shu Mei Teo","orcid":"https://orcid.org/0000-0002-4563-7836"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]}],"countries":["SE","SG"],"is_corresponding":true,"raw_author_name":"Shu Mei Teo","raw_affiliation_strings":["1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden"],"affiliations":[{"raw_affiliation_string":"1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden","institution_ids":["https://openalex.org/I165932596","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012606625","display_name":"Yudi Pawitan","orcid":"https://orcid.org/0000-0003-0324-7052"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]}],"countries":["SE","SG"],"is_corresponding":false,"raw_author_name":"Yudi Pawitan","raw_affiliation_strings":["1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden"],"affiliations":[{"raw_affiliation_string":"1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden","institution_ids":["https://openalex.org/I165932596","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113569850","display_name":"Chee Seng Ku","orcid":null},"institutions":[{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE","SG"],"is_corresponding":false,"raw_author_name":"Chee Seng Ku","raw_affiliation_strings":["1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden"],"affiliations":[{"raw_affiliation_string":"1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden","institution_ids":["https://openalex.org/I165932596","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075708255","display_name":"Kee Seng Chia","orcid":"https://orcid.org/0000-0002-0629-5570"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]}],"countries":["SE","SG"],"is_corresponding":false,"raw_author_name":"Kee Seng Chia","raw_affiliation_strings":["1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden"],"affiliations":[{"raw_affiliation_string":"1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden","institution_ids":["https://openalex.org/I165932596","https://openalex.org/I28166907"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5006817516","display_name":"Agus Salim","orcid":"https://orcid.org/0000-0003-3999-7701"},"institutions":[{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE","SG"],"is_corresponding":false,"raw_author_name":"Agus Salim","raw_affiliation_strings":["1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden"],"affiliations":[{"raw_affiliation_string":"1 Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, 2NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456 and 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden","institution_ids":["https://openalex.org/I165932596","https://openalex.org/I28166907"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5024911069"],"corresponding_institution_ids":["https://openalex.org/I165932596","https://openalex.org/I28166907"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":14.6616,"has_fulltext":false,"cited_by_count":243,"citation_normalized_percentile":{"value":0.99277525,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"28","issue":"21","first_page":"2711","last_page":"2718"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9973000288009644,"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":0.994700014591217,"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/copy-number-variation","display_name":"Copy-number variation","score":0.587583065032959},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.5489639639854431},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4588305652141571},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.38410642743110657},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.3312714099884033},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.28728920221328735},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.15668556094169617},{"id":"https://openalex.org/keywords/dna","display_name":"DNA","score":0.12683025002479553},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.12416082620620728}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.587583065032959},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5489639639854431},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4588305652141571},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.38410642743110657},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3312714099884033},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.28728920221328735},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.15668556094169617},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.12683025002479553},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12416082620620728}],"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":"D001482","descriptor_name":"Base Composition","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001482","descriptor_name":"Base Composition","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001482","descriptor_name":"Base Composition","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":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D011786","descriptor_name":"Quality Control","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011786","descriptor_name":"Quality Control","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011786","descriptor_name":"Quality Control","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015983","descriptor_name":"Selection Bias","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015983","descriptor_name":"Selection Bias","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015983","descriptor_name":"Selection Bias","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D020440","descriptor_name":"Gene Duplication","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020440","descriptor_name":"Gene Duplication","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020440","descriptor_name":"Gene Duplication","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":"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/bts535","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bts535","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/28/21/2711/16910402/bts535.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:22942022","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22942022","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:scholarbank.nus.edu.sg:10635/108849","is_oa":false,"landing_page_url":"http://scholarbank.nus.edu.sg/handle/10635/108849","pdf_url":null,"source":{"id":"https://openalex.org/S7407052290","display_name":"National University of Singapore","issn_l":null,"issn":[],"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Scopus","raw_type":"Review"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/bts535","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bts535","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/28/21/2711/16910402/bts535.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals","score":0.4000000059604645}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2140888103.pdf","grobid_xml":"https://content.openalex.org/works/W2140888103.grobid-xml"},"referenced_works_count":49,"referenced_works":["https://openalex.org/W1841715584","https://openalex.org/W1966822396","https://openalex.org/W2001725958","https://openalex.org/W2010361633","https://openalex.org/W2018604728","https://openalex.org/W2021714239","https://openalex.org/W2035593347","https://openalex.org/W2041694722","https://openalex.org/W2046137036","https://openalex.org/W2046601740","https://openalex.org/W2047361940","https://openalex.org/W2056571985","https://openalex.org/W2057423189","https://openalex.org/W2065817684","https://openalex.org/W2083870688","https://openalex.org/W2088642463","https://openalex.org/W2090144921","https://openalex.org/W2101342813","https://openalex.org/W2102095995","https://openalex.org/W2103011829","https://openalex.org/W2107688500","https://openalex.org/W2112113834","https://openalex.org/W2116126626","https://openalex.org/W2118526609","https://openalex.org/W2121743948","https://openalex.org/W2123871174","https://openalex.org/W2131088968","https://openalex.org/W2134800079","https://openalex.org/W2136651963","https://openalex.org/W2137779717","https://openalex.org/W2138044148","https://openalex.org/W2138603354","https://openalex.org/W2139747296","https://openalex.org/W2142403957","https://openalex.org/W2144759168","https://openalex.org/W2149681218","https://openalex.org/W2150506261","https://openalex.org/W2152073175","https://openalex.org/W2153994884","https://openalex.org/W2154397429","https://openalex.org/W2160444236","https://openalex.org/W2160969485","https://openalex.org/W2161546116","https://openalex.org/W2163809592","https://openalex.org/W2169508919","https://openalex.org/W2170855681","https://openalex.org/W2171777347","https://openalex.org/W2885727518","https://openalex.org/W3103707579"],"related_works":["https://openalex.org/W2748952813","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":{"In":[0,20],"this":[1],"review,":[2],"we":[3,22,54],"describe":[4],"and":[5,39,64,92,98],"discuss":[6,99],"areas":[7],"of":[8,16,37,50,72,88,96],"potential":[9],"biases":[10],"in":[11,42,75],"CNV":[12,80],"detection":[13],"for":[14,101],"each":[15],"the":[17,51,60],"four":[18],"methods.":[19],"particular,":[21],"focus":[23],"on":[24],"issues":[25,52],"pertaining":[26],"to":[27,48,106],"(i)":[28],"mappability,":[29],"(ii)":[30],"GC-content":[31],"bias,":[32],"(iii)":[33],"quality":[34,94],"control":[35,95],"measures":[36],"reads":[38,74,97],"(iv)":[40],"difficulty":[41],"identifying":[43],"duplications.":[44],"To":[45],"gain":[46],"insights":[47],"some":[49],"discussed,":[53],"also":[55],"download":[56],"real":[57],"data":[58],"from":[59],"1000":[61],"Genomes":[62],"Project":[63],"analyse":[65],"its":[66],"DOC":[67,89],"data.":[68],"We":[69],"show":[70],"examples":[71],"how":[73],"repeated":[76],"regions":[77],"can":[78],"affect":[79],"detection,":[81],"demonstrate":[82],"current":[83],"GC-correction":[84],"algorithms,":[85],"investigate":[86],"sensitivity":[87],"algorithm":[90],"before":[91],"after":[93],"reasons":[100],"which":[102],"duplications":[103],"are":[104],"harder":[105],"detect":[107],"than":[108],"deletions.":[109]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":13},{"year":2024,"cited_by_count":12},{"year":2023,"cited_by_count":9},{"year":2022,"cited_by_count":13},{"year":2021,"cited_by_count":24},{"year":2020,"cited_by_count":19},{"year":2019,"cited_by_count":18},{"year":2018,"cited_by_count":17},{"year":2017,"cited_by_count":22},{"year":2016,"cited_by_count":20},{"year":2015,"cited_by_count":23},{"year":2014,"cited_by_count":30},{"year":2013,"cited_by_count":18}],"updated_date":"2026-03-07T16:01:11.037858","created_date":"2025-10-10T00:00:00"}