{"id":"https://openalex.org/W2118256706","doi":"https://doi.org/10.1186/1471-2105-15-247","title":"Variant detection sensitivity and biases in whole genome and exome sequencing","display_name":"Variant detection sensitivity and biases in whole genome and exome sequencing","publication_year":2014,"publication_date":"2014-07-19","ids":{"openalex":"https://openalex.org/W2118256706","doi":"https://doi.org/10.1186/1471-2105-15-247","mag":"2118256706","pmid":"https://pubmed.ncbi.nlm.nih.gov/25038816"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2105-15-247","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-15-247","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-15-247","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,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline","norway-2"],"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/10.1186/1471-2105-15-247","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080389454","display_name":"Alison M. Meynert","orcid":"https://orcid.org/0000-0001-5839-1751","observed_orcids":["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/I4387154614","display_name":"MRC Human Genetics Unit","ror":"https://ror.org/011jsc803","country_code":null,"type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4387154614","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 of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU Edinburgh, UK. alison.meynert@igmm.ed.ac.uk","MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU Edinburgh, UK. alison.meynert@igmm.ed.ac.uk","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","https://openalex.org/I98677209"]},{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043400362","display_name":"Morad Ansari","orcid":"https://orcid.org/0000-0002-8905-5379","observed_orcids":["https://orcid.org/0000-0002-8905-5379"]},"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/I4387154614","display_name":"MRC Human Genetics Unit","ror":"https://ror.org/011jsc803","country_code":null,"type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4387154614","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":"Morad Ansari","raw_affiliation_strings":["MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK","MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","https://openalex.org/I98677209"]},{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055650452","display_name":"David R FitzPatrick","orcid":"https://orcid.org/0000-0003-4861-969X","observed_orcids":["https://orcid.org/0000-0003-4861-969X"]},"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/I4387154614","display_name":"MRC Human Genetics Unit","ror":"https://ror.org/011jsc803","country_code":null,"type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4387154614","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":"David R FitzPatrick","raw_affiliation_strings":["MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK","MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","https://openalex.org/I98677209"]},{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","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","observed_orcids":["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/I4387154614","display_name":"MRC Human Genetics Unit","ror":"https://ror.org/011jsc803","country_code":null,"type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4387154614","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":"Martin S Taylor","raw_affiliation_strings":["MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK","MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","https://openalex.org/I98677209"]},{"raw_affiliation_string":"MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","https://openalex.org/I98677209"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5080389454"],"corresponding_institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I4210158898","https://openalex.org/I4387154614","https://openalex.org/I98677209"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":17.1545,"has_fulltext":true,"cited_by_count":230,"citation_normalized_percentile":{"value":0.99509231,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"15","issue":"1","first_page":"247","last_page":"247"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9868000149726868,"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":0.9868000149726868,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.01080000028014183,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.000699999975040555,"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/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.8320000171661377},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.9919999837875366},{"id":"https://openalex.org/keywords/variant-detection-sensitivity","display_name":"variant detection sensitivity","score":0.8840000033378601},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9279999732971191},{"id":"https://openalex.org/keywords/sequencing-bias","display_name":"sequencing bias","score":0.531000018119812},{"id":"https://openalex.org/keywords/targeted-capture","display_name":"targeted capture","score":0.4749999940395355},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.7070000171661377}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.8418906927108765},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.804794430732727},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5782051086425781},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5299457311630249},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.501889705657959},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.4657000005245209},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4576283097267151},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4314866364002228},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20851600170135498},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2024170160293579}],"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":"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":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/1471-2105-15-247","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-15-247","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-15-247","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,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline","norway-2"],"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":"pmh:oai:pubmedcentral.nih.gov:4122774","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4122774","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":"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":"Text"},{"id":"pmid:25038816","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25038816","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":"BMC bioinformatics","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:3094114","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4122774","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pure.ed.ac.uk:openaire/a83e90ea-f8b9-4b45-be16-e92e37b0f4c4","is_oa":true,"landing_page_url":"https://www.research.ed.ac.uk/en/publications/a83e90ea-f8b9-4b45-be16-e92e37b0f4c4","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,"listed_in":[],"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 M, Ansari, M, FitzPatrick, D R & Taylor, M S 2014, 'Variant detection sensitivity and biases in whole genome and exome sequencing', BMC Bioinformatics, vol. 15, 247. https://doi.org/10.1186/1471-2105-15-247","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1186/1471-2105-15-247","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-15-247","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-15-247","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,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline","norway-2"],"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":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.46810001134872437}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2118256706.pdf","grobid_xml":"https://content.openalex.org/works/W2118256706.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W1483242733","https://openalex.org/W2010595044","https://openalex.org/W2012016911","https://openalex.org/W2018742603","https://openalex.org/W2039716761","https://openalex.org/W2047541315","https://openalex.org/W2103441770","https://openalex.org/W2104595023","https://openalex.org/W2107916366","https://openalex.org/W2118280711","https://openalex.org/W2119180969","https://openalex.org/W2119818111","https://openalex.org/W2128016314","https://openalex.org/W2129504003","https://openalex.org/W2141637710","https://openalex.org/W2144523701","https://openalex.org/W2147733682","https://openalex.org/W2152848636","https://openalex.org/W2158297569","https://openalex.org/W2160444236","https://openalex.org/W2167703924","https://openalex.org/W2168133698","https://openalex.org/W2171777347","https://openalex.org/W2885727518","https://openalex.org/W3098304617","https://openalex.org/W4210290733"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W2094815267","https://openalex.org/W1983406990","https://openalex.org/W2484239316","https://openalex.org/W3024198590","https://openalex.org/W4367844067"],"abstract_inverted_index":{"BACKGROUND:":[0],"Less":[1],"than":[2,167],"two":[3],"percent":[4],"of":[5,19,39,68,76,99,116,130,139,154,164,180,189,206,238,248],"the":[6,17,36,48,63,69,73,162,207,229,260],"human":[7],"genome":[8,28,112,149,208],"is":[9,42,220,285,303],"protein":[10,49],"coding,":[11],"yet":[12],"that":[13,102,262,289],"small":[14],"fraction":[15],"harbours":[16],"majority":[18],"known":[20],"disease":[21,193],"causing":[22,194],"mutations.":[23],"Despite":[24,137],"rapidly":[25],"falling":[26],"whole":[27,111,148],"sequencing":[29,67,150],"(WGS)":[30],"costs,":[31],"much":[32],"research":[33],"and":[34,57,66,93,110,125,158,241,298],"increasingly":[35],"clinical":[37],"use":[38],"sequence":[40,122,155,204],"data":[41,288],"likely":[43,304],"to":[44,55,106,127,203,277,305],"remain":[45],"focused":[46],"on":[47,121],"coding":[50,231,296],"exome.":[51],"We":[52,87],"set":[53,98,129],"out":[54],"quantify":[56],"understand":[58],"how":[59],"WGS":[60,184,219,233,284],"compares":[61],"with":[62,223,259],"targeted":[64,84,230],"capture":[65,144],"exome":[70,83,109,143],"(exome-seq),":[71],"for":[72,134,209,225,273,309],"specific":[74],"purpose":[75],"identifying":[77],"single":[78],"nucleotide":[79],"polymorphisms":[80,294],"(SNPs)":[81],"in":[82,142,161,228,236,251],"regions.":[85,232],"RESULTS:":[86],"have":[88,103],"compared":[89],"polymorphism":[90],"detection":[91,117,163,173,227,275],"sensitivity":[92,118,174],"systematic":[94],"biases":[95,160],"using":[96],"a":[97,128,176,187],"tissue":[100],"samples":[101],"been":[104],"subject":[105],"both":[107,247],"deep":[108],"sequencing.":[113],"The":[114],"scoring":[115],"was":[119],"based":[120],"down":[123],"sampling":[124],"reference":[126],"gold-standard":[131],"SNP":[132,172],"calls":[133],"each":[135],"sample.":[136],"evidence":[138],"incremental":[140],"improvements":[141],"technology":[145],"over":[146],"time,":[147],"has":[151],"greater":[152],"uniformity":[153,237],"read":[156,239,271],"coverage":[157,240],"reduced":[159],"non-reference":[165],"alleles":[166],"exome-seq.":[168],"Exome-seq":[169],"achieves":[170],"95%":[171],"at":[175,221],"mean":[177,188],"on-target":[178],"depth":[179,272],"40":[181],"reads,":[182],"whereas":[183],"only":[185],"requires":[186],"14":[190],"reads.":[191],"Known":[192],"mutations":[195],"are":[196],"not":[197],"biased":[198],"towards":[199],"easy":[200],"or":[201,212,280],"hard":[202],"areas":[205],"either":[210],"exome-seq":[211,224,264,308],"WGS.":[213],"CONCLUSIONS:":[214],"From":[215],"an":[216],"economic":[217],"perspective,":[218],"parity":[222],"variant":[226,274],"offers":[234],"benefits":[235],"more":[242],"balanced":[243],"allele":[244],"ratio":[245],"calls,":[246],"which":[249],"can":[250,290],"most":[252],"cases":[253],"be":[254],"offset":[255],"by":[256],"deeper":[257],"exome-seq,":[258],"caveat":[261],"some":[263],"targets":[265],"will":[266],"never":[267],"achieve":[268],"sufficient":[269],"mapped":[270],"due":[276],"technical":[278],"difficulties":[279],"probe":[281],"failures.":[282],"As":[283],"intrinsically":[286],"richer":[287],"provide":[291],"insight":[292],"into":[293],"outside":[295],"regions":[297],"reveal":[299],"genomic":[300],"rearrangements,":[301],"it":[302],"progressively":[306],"replace":[307],"many":[310],"applications.":[311]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":10},{"year":2023,"cited_by_count":14},{"year":2022,"cited_by_count":14},{"year":2021,"cited_by_count":15},{"year":2020,"cited_by_count":23},{"year":2019,"cited_by_count":32},{"year":2018,"cited_by_count":28},{"year":2017,"cited_by_count":20},{"year":2016,"cited_by_count":32},{"year":2015,"cited_by_count":22},{"year":2014,"cited_by_count":7}],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2025-10-10T00:00:00"}
