{"id":"https://openalex.org/W2047541315","doi":"https://doi.org/10.1186/1471-2105-14-195","title":"Quantifying single nucleotide variant detection sensitivity in exome sequencing","display_name":"Quantifying single nucleotide variant detection sensitivity in exome sequencing","publication_year":2013,"publication_date":"2013-06-17","ids":{"openalex":"https://openalex.org/W2047541315","doi":"https://doi.org/10.1186/1471-2105-14-195","mag":"2047541315","pmid":"https://pubmed.ncbi.nlm.nih.gov/23773188"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2105-14-195","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-14-195","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-14-195","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-14-195","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080389454","display_name":"Alison Meynert","orcid":"https://orcid.org/0000-0001-5839-1751"},"institutions":[{"id":"https://openalex.org/I2800150677","display_name":"Western General Hospital","ror":"https://ror.org/009kr6r15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324252669","https://openalex.org/I2800150677"]},{"id":"https://openalex.org/I4210158898","display_name":"Institute of Genetics and Cancer","ror":"https://ror.org/05hygey35","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4210158898","https://openalex.org/I90344618","https://openalex.org/I98677209"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Alison M Meynert","raw_affiliation_strings":["MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK. alison.meynert@igmm.ed.ac.uk","MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK. alison.meynert@igmm.ed.ac.uk","institution_ids":["https://openalex.org/I4210158898"]},{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I4210158898","https://openalex.org/I2800150677","https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044756083","display_name":"Louise S. Bicknell","orcid":"https://orcid.org/0000-0001-6899-9322"},"institutions":[{"id":"https://openalex.org/I2800150677","display_name":"Western General Hospital","ror":"https://ror.org/009kr6r15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324252669","https://openalex.org/I2800150677"]},{"id":"https://openalex.org/I4210158898","display_name":"Institute of Genetics and Cancer","ror":"https://ror.org/05hygey35","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4210158898","https://openalex.org/I90344618","https://openalex.org/I98677209"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Louise S Bicknell","raw_affiliation_strings":["MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK","MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK","institution_ids":["https://openalex.org/I4210158898","https://openalex.org/I2800150677","https://openalex.org/I98677209"]},{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I4210158898","https://openalex.org/I2800150677","https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068997042","display_name":"Matthew E. Hurles","orcid":"https://orcid.org/0000-0002-2333-7015"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Matthew E Hurles","raw_affiliation_strings":["Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK","Wellcome Trust Sanger Institute, Hinxton/UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Wellcome Trust Sanger Institute, Hinxton/UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048144016","display_name":"Andrew P. Jackson","orcid":"https://orcid.org/0000-0002-8739-2646"},"institutions":[{"id":"https://openalex.org/I2800150677","display_name":"Western General Hospital","ror":"https://ror.org/009kr6r15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324252669","https://openalex.org/I2800150677"]},{"id":"https://openalex.org/I4210158898","display_name":"Institute of Genetics and Cancer","ror":"https://ror.org/05hygey35","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4210158898","https://openalex.org/I90344618","https://openalex.org/I98677209"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Andrew P Jackson","raw_affiliation_strings":["MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK","MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK","institution_ids":["https://openalex.org/I4210158898","https://openalex.org/I2800150677","https://openalex.org/I98677209"]},{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I4210158898","https://openalex.org/I2800150677","https://openalex.org/I98677209"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008886339","display_name":"Martin S. Taylor","orcid":"https://orcid.org/0000-0001-7656-330X"},"institutions":[{"id":"https://openalex.org/I2800150677","display_name":"Western General Hospital","ror":"https://ror.org/009kr6r15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324252669","https://openalex.org/I2800150677"]},{"id":"https://openalex.org/I4210158898","display_name":"Institute of Genetics and Cancer","ror":"https://ror.org/05hygey35","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4210158898","https://openalex.org/I90344618","https://openalex.org/I98677209"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Martin S Taylor","raw_affiliation_strings":["MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK","MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK","institution_ids":["https://openalex.org/I4210158898","https://openalex.org/I2800150677","https://openalex.org/I98677209"]},{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I4210158898","https://openalex.org/I2800150677","https://openalex.org/I98677209"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5008886339","https://openalex.org/A5080389454"],"corresponding_institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I98677209"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":7.791,"has_fulltext":true,"cited_by_count":85,"citation_normalized_percentile":{"value":0.97653079,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":100},"biblio":{"volume":"14","issue":"1","first_page":"195","last_page":"195"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8899999856948853,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.8899999856948853,"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":0.051100000739097595,"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":0.02500000037252903,"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","display_name":"Exome","score":0.7180884480476379},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.6947051286697388},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.685990571975708},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6705130338668823},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5618366003036499},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.5484266877174377},{"id":"https://openalex.org/keywords/sampling-bias","display_name":"Sampling bias","score":0.4924546182155609},{"id":"https://openalex.org/keywords/dna-microarray","display_name":"DNA microarray","score":0.43606051802635193},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.41590258479118347},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.2386467158794403},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.2288702130317688},{"id":"https://openalex.org/keywords/sample-size-determination","display_name":"Sample size determination","score":0.2257983386516571},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.11971983313560486},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.07893794775009155}],"concepts":[{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.7180884480476379},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6947051286697388},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.685990571975708},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6705130338668823},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5618366003036499},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5484266877174377},{"id":"https://openalex.org/C75917345","wikidata":"https://www.wikidata.org/wiki/Q2725298","display_name":"Sampling bias","level":3,"score":0.4924546182155609},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.43606051802635193},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.41590258479118347},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2386467158794403},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2288702130317688},{"id":"https://openalex.org/C129848803","wikidata":"https://www.wikidata.org/wiki/Q2564360","display_name":"Sample size determination","level":2,"score":0.2257983386516571},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.11971983313560486},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.07893794775009155},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1186/1471-2105-14-195","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-14-195","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-14-195","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:23773188","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23773188","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:europepmc.org:2694537","is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3695811","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3695811","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3695811","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,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Text"},{"id":"pmh:oai:pure.ed.ac.uk:openaire/bb536dec-e319-4258-924d-b0ceb587b038","is_oa":true,"landing_page_url":"https://hdl.handle.net/20.500.11820/bb536dec-e319-4258-924d-b0ceb587b038","pdf_url":null,"source":{"id":"https://openalex.org/S4306400321","display_name":"Edinburgh Research Explorer (University of Edinburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I98677209","host_organization_name":"University of Edinburgh","host_organization_lineage":["https://openalex.org/I98677209"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Meynert, A, Bicknell, L, Jackson, A & Taylor, M S 2013, 'Quantifying single nucleotide variant detection sensitivity in exome sequencing', BMC Bioinformatics, vol. 14, no. 195, 195. https://doi.org/10.1186/1471-2105-14-195","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:pure.ed.ac.uk:publications/bb536dec-e319-4258-924d-b0ceb587b038","is_oa":true,"landing_page_url":"https://www.research.ed.ac.uk/en/publications/bb536dec-e319-4258-924d-b0ceb587b038","pdf_url":null,"source":{"id":"https://openalex.org/S4406922455","display_name":"Edinburgh Research Explorer","issn_l":null,"issn":null,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":""}],"best_oa_location":{"id":"doi:10.1186/1471-2105-14-195","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-14-195","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-14-195","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320320615","display_name":"Lister Institute of Preventive Medicine","ror":"https://ror.org/03356n642"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2047541315.pdf","grobid_xml":"https://content.openalex.org/works/W2047541315.grobid-xml"},"referenced_works_count":32,"referenced_works":["https://openalex.org/W65571562","https://openalex.org/W1483242733","https://openalex.org/W1964963969","https://openalex.org/W1973878786","https://openalex.org/W1988156733","https://openalex.org/W2003906818","https://openalex.org/W2036210716","https://openalex.org/W2058140004","https://openalex.org/W2065945313","https://openalex.org/W2093932542","https://openalex.org/W2100895919","https://openalex.org/W2102729801","https://openalex.org/W2102867781","https://openalex.org/W2103441770","https://openalex.org/W2104595023","https://openalex.org/W2106924416","https://openalex.org/W2107916366","https://openalex.org/W2108234281","https://openalex.org/W2113312463","https://openalex.org/W2116041602","https://openalex.org/W2119180969","https://openalex.org/W2129504003","https://openalex.org/W2133604043","https://openalex.org/W2140247415","https://openalex.org/W2148300747","https://openalex.org/W2152745352","https://openalex.org/W2155445544","https://openalex.org/W2166849161","https://openalex.org/W2167703924","https://openalex.org/W2168133698","https://openalex.org/W2172144230","https://openalex.org/W4235269497"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W2400191746","https://openalex.org/W1983406990","https://openalex.org/W2094815267","https://openalex.org/W2484239316","https://openalex.org/W3024198590","https://openalex.org/W4367844067","https://openalex.org/W2104595023","https://openalex.org/W2106924416"],"abstract_inverted_index":{"BACKGROUND:":[0],"The":[1],"targeted":[2,256],"capture":[3],"and":[4,27,58,62,80,183,211,249,318],"sequencing":[5,242],"of":[6,24,75,83,110,136,167,203,213,218,234,247,251,272,304,311,323],"genomic":[7],"regions":[8,257],"has":[9],"rapidly":[10],"demonstrated":[11],"its":[12],"utility":[13],"in":[14,18,46,123,254,264,307,316],"genetic":[15,48],"studies.":[16],"Inherent":[17],"this":[19,28],"technology":[20],"is":[21,29,51,126,205,290],"considerable":[22],"heterogeneity":[23],"target":[25,169],"coverage":[26,279,296],"expected":[30],"to":[31,36,54,59,107,146,158,189,207,302],"systematically":[32],"impact":[33],"our":[34],"sensitivity":[35,122,152,161],"detect":[37,56,208],"genuine":[38],"polymorphisms.":[39],"To":[40],"fully":[41],"interpret":[42],"the":[43,100,108,112,133,168,209,219,255,265,284,320],"polymorphisms":[44,57,67],"identified":[45],"a":[47,81,104,139,199,214,225,229,269],"study":[49],"it":[50],"often":[52],"essential":[53],"both":[55],"understand":[60],"where":[61],"with":[63],"what":[64],"probability":[65,109],"real":[66],"may":[68],"have":[69,268],"been":[70],"missed.":[71,260],"RESULTS:":[72],"Using":[73],"down-sampling":[74],"30":[76],"deeply":[77],"sequenced":[78],"exomes":[79],"set":[82],"gold-standard":[84],"single":[85,148],"nucleotide":[86,149],"variant":[87],"(SNV)":[88],"genotype":[89,114,212],"calls":[90],"for":[91,163,193,224,238],"each":[92],"sample,":[93],"we":[94,244],"developed":[95],"an":[96,194],"empirical":[97],"model":[98,143],"relating":[99],"read":[101,201,232,278],"depth":[102,202,233],"at":[103,115,294],"polymorphic":[105],"site":[106],"calling":[111],"correct":[113],"that":[116,120,130,288],"site.":[117],"We":[118,197],"find":[119],"measured":[121],"SNV":[124,151,216],"detection":[125,293],"substantially":[127],"worse":[128],"than":[129],"predicted":[131],"from":[132,138],"naive":[134],"expectation":[135],"sampling":[137],"binomial.":[140],"This":[141],"calibrated":[142],"allows":[144],"us":[145],"produce":[147],"resolution":[150],"estimates":[153],"which":[154],"can":[155,184],"be":[156,185,259,303],"merged":[157],"give":[159,190],"summary":[160],"measures":[162],"any":[164],"arbitrary":[165],"partition":[166],"sequences":[170],"(nucleotide,":[171],"exon,":[172],"gene,":[173],"pathway,":[174],"exome).":[175],"These":[176],"metrics":[177],"are":[178,281,300],"directly":[179],"comparable":[180],"between":[181,187],"platforms":[182],"combined":[186],"samples":[188],"\"power":[191],"estimates\"":[192],"entire":[195],"study.":[196],"estimate":[198],"local":[200],"13X":[204],"required":[206],"alleles":[210,263,299],"heterozygous":[215,248],"95%":[217],"time,":[220],"but":[221],"only":[222],"3X":[223],"homozygous":[226,252],"SNV.":[227],"At":[228],"mean":[230],"on-target":[231],"20X,":[235],"commonly":[236,276],"used":[237,282],"rare":[239,312],"disease":[240],"exome":[241],"studies,":[243],"predict":[245],"5-15%":[246],"1-4%":[250],"SNVs":[253],"will":[258],"CONCLUSIONS:":[261],"Non-reference":[262],"heterozygote":[266],"state":[267],"high":[270],"chance":[271],"being":[273],"missed":[274],"when":[275],"applied":[277],"thresholds":[280],"despite":[283],"widely":[285],"held":[286],"assumption":[287],"there":[289],"good":[291],"polymorphism":[292],"these":[295],"levels.":[297],"Such":[298],"likely":[301],"functional":[305],"importance":[306],"population":[308],"based":[309],"studies":[310],"diseases,":[313],"somatic":[314],"mutations":[315],"cancer":[317],"explaining":[319],"\"missing":[321],"heritability\"":[322],"quantitative":[324],"traits.":[325]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":18},{"year":2013,"cited_by_count":4}],"updated_date":"2026-06-26T08:34:08.712188","created_date":"2025-10-10T00:00:00"}