{"id":"https://openalex.org/W2041534932","doi":"https://doi.org/10.1109/iccabs.2011.5729930","title":"Workshop: Coverage tradeoffs and power estimation in the design of whole-genome sequencing experiments for detecting association","display_name":"Workshop: Coverage tradeoffs and power estimation in the design of whole-genome sequencing experiments for detecting association","publication_year":2011,"publication_date":"2011-02-01","ids":{"openalex":"https://openalex.org/W2041534932","doi":"https://doi.org/10.1109/iccabs.2011.5729930","mag":"2041534932"},"language":"en","primary_location":{"id":"doi:10.1109/iccabs.2011.5729930","is_oa":false,"landing_page_url":"https://doi.org/10.1109/iccabs.2011.5729930","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2011 IEEE 1st International Conference on Computational Advances in Bio and Medical Sciences (ICCABS)","raw_type":"proceedings-article"},"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5051597447","display_name":"Yufeng Shen","orcid":"https://orcid.org/0000-0002-1299-5979"},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Yufeng Shen","raw_affiliation_strings":["Center for Computational Biology and Bioinformatics, Columbia University, New York, New York, USA","Department of Computer Science, Columbia University, New York 10027, USA"],"affiliations":[{"raw_affiliation_string":"Center for Computational Biology and Bioinformatics, Columbia University, New York, New York, USA","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"Department of Computer Science, Columbia University, New York 10027, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103536157","display_name":"Ruijie Song","orcid":null},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ruijie Song","raw_affiliation_strings":["Department of Computer Science, Columbia University, New York, New York","Department of Computer Science, Columbia University, New York 10027, USA"],"affiliations":[{"raw_affiliation_string":"Department of Computer Science, Columbia University, New York, New York","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"Department of Computer Science, Columbia University, New York 10027, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008985951","display_name":"Itsik Pe\u2019er","orcid":"https://orcid.org/0000-0002-6128-7231"},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Itsik Pe'er","raw_affiliation_strings":["Center for Computational Biology and Bioinformatics, Columbia University, New York, New York","Department of Computer Science, Columbia University, New York 10027, USA"],"affiliations":[{"raw_affiliation_string":"Center for Computational Biology and Bioinformatics, Columbia University, New York, New York","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"Department of Computer Science, Columbia University, New York 10027, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5051597447"],"corresponding_institution_ids":["https://openalex.org/I78577930"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.10395428,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"276","last_page":"276"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.989799976348877,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.989799976348877,"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":0.9891999959945679,"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":0.9764999747276306,"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/exome-sequencing","display_name":"Exome sequencing","score":0.6105804443359375},{"id":"https://openalex.org/keywords/statistical-power","display_name":"Statistical power","score":0.5203149318695068},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.5041247606277466},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.5026407241821289},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.501549243927002},{"id":"https://openalex.org/keywords/heritability","display_name":"Heritability","score":0.4881952404975891},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"Whole genome sequencing","score":0.48771652579307556},{"id":"https://openalex.org/keywords/range","display_name":"Range (aeronautics)","score":0.48185479640960693},{"id":"https://openalex.org/keywords/sample-size-determination","display_name":"Sample size determination","score":0.46448642015457153},{"id":"https://openalex.org/keywords/constraint","display_name":"Constraint (computer-aided design)","score":0.4521130323410034},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4403047561645508},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.4261088967323303},{"id":"https://openalex.org/keywords/missing-heritability-problem","display_name":"Missing heritability problem","score":0.42342495918273926},{"id":"https://openalex.org/keywords/power","display_name":"Power (physics)","score":0.4122292697429657},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.34804245829582214},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.34735894203186035},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.33108556270599365},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.29273903369903564},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.28039658069610596},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.22433078289031982},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"Genetic variants","score":0.18060290813446045},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.1712195873260498},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.16720789670944214},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.1279963254928589},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.10344663262367249}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6105804443359375},{"id":"https://openalex.org/C96608239","wikidata":"https://www.wikidata.org/wiki/Q1199823","display_name":"Statistical power","level":2,"score":0.5203149318695068},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5041247606277466},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5026407241821289},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.501549243927002},{"id":"https://openalex.org/C161890455","wikidata":"https://www.wikidata.org/wiki/Q1503548","display_name":"Heritability","level":2,"score":0.4881952404975891},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.48771652579307556},{"id":"https://openalex.org/C204323151","wikidata":"https://www.wikidata.org/wiki/Q905424","display_name":"Range (aeronautics)","level":2,"score":0.48185479640960693},{"id":"https://openalex.org/C129848803","wikidata":"https://www.wikidata.org/wiki/Q2564360","display_name":"Sample size determination","level":2,"score":0.46448642015457153},{"id":"https://openalex.org/C2776036281","wikidata":"https://www.wikidata.org/wiki/Q48769818","display_name":"Constraint (computer-aided design)","level":2,"score":0.4521130323410034},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4403047561645508},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4261088967323303},{"id":"https://openalex.org/C144621757","wikidata":"https://www.wikidata.org/wiki/Q3083720","display_name":"Missing heritability problem","level":5,"score":0.42342495918273926},{"id":"https://openalex.org/C163258240","wikidata":"https://www.wikidata.org/wiki/Q25342","display_name":"Power (physics)","level":2,"score":0.4122292697429657},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.34804245829582214},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.34735894203186035},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.33108556270599365},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.29273903369903564},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.28039658069610596},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.22433078289031982},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.18060290813446045},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.1712195873260498},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.16720789670944214},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1279963254928589},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.10344663262367249},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.0},{"id":"https://openalex.org/C146978453","wikidata":"https://www.wikidata.org/wiki/Q3798668","display_name":"Aerospace engineering","level":1,"score":0.0},{"id":"https://openalex.org/C62520636","wikidata":"https://www.wikidata.org/wiki/Q944","display_name":"Quantum mechanics","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C2524010","wikidata":"https://www.wikidata.org/wiki/Q8087","display_name":"Geometry","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/iccabs.2011.5729930","is_oa":false,"landing_page_url":"https://doi.org/10.1109/iccabs.2011.5729930","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2011 IEEE 1st International Conference on Computational Advances in Bio and Medical Sciences (ICCABS)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals","score":0.4099999964237213}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W4402567428","https://openalex.org/W2043256480","https://openalex.org/W2172231381","https://openalex.org/W1983406990","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W2898561602"],"abstract_inverted_index":{"Whole-genome":[0],"sequencing":[1,26,47,113,164],"(WGS)":[2],"allows":[3],"direct":[4],"interrogation":[5],"of":[6,20,25,29,54,60,74,86,93,108,118,129,173],"previously":[7],"undetected":[8],"uncommon":[9],"or":[10],"rare":[11],"variants,":[12],"which":[13,148],"potentially":[14],"contribute":[15],"to":[16,70,77],"the":[17,52,58,71,91,115,127,151,160],"missing":[18],"heritability":[19],"human":[21],"diseases.":[22],"However,":[23],"cost":[24,62,67,143],"large":[27],"numbers":[28],"samples":[30],"limits":[31],"its":[32],"application":[33],"in":[34,84,153],"case":[35,152],"control":[36],"association":[37,56,120],"studies.":[38],"Here,":[39],"theoretical":[40],"and":[41,95,167],"empirical":[42],"design":[43,162],"considerations":[44],"for":[45,111,163],"such":[46],"studies,":[48],"aimed":[49],"at":[50,123],"maximizing":[51],"power":[53,88,117,128],"detecting":[55,119],"under":[57,104],"constraint":[59],"study-wide":[61],"are":[63],"presented.":[64],"Firstly,":[65],"assuming":[66,142],"is":[68,101,121,132,144,149,157],"proportional":[69],"total":[72],"amount":[73],"base":[75],"pairs":[76],"be":[78],"sequenced":[79],"across":[80],"all":[81,174],"samples,":[82],"tradeoff":[83],"terms":[85],"study":[87],"between":[89],"increasing":[90,96,139],"number":[92],"subjects":[94],"depth-of-coverage":[97],"was":[98],"explored.":[99],"It":[100],"demonstrated":[102],"that":[103,159],"a":[105],"wide":[106],"range":[107],"realistic":[109],"conditions":[110],"case-only":[112],"designs,":[114],"optimal":[116,161],"achieved":[122],"medium":[124],"depth-of-coverage,":[125],"where":[126],"calling":[130],"variants":[131],"suboptimal":[133],"but":[134],"approaching":[135],"diminishing":[136],"returns":[137],"from":[138],"depth.":[140],"Secondly,":[141],"fixed":[145],"per":[146],"sample,":[147],"approximately":[150],"exome":[154],"sequencing,":[155],"it":[156],"shown":[158],"both":[165],"cases":[166,170],"controls":[168],"includes":[169],"totaling":[171],"1/e":[172],"subjects.":[175]},"counts_by_year":[],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}
