{"id":"https://openalex.org/W2053734053","doi":"https://doi.org/10.1186/1471-2164-13-500","title":"Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing","display_name":"Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing","publication_year":2012,"publication_date":"2012-09-20","ids":{"openalex":"https://openalex.org/W2053734053","doi":"https://doi.org/10.1186/1471-2164-13-500","mag":"2053734053","pmid":"https://pubmed.ncbi.nlm.nih.gov/22994565","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3534403"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2164-13-500","doi":"https://doi.org/10.1186/1471-2164-13-500","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2164-13-500","pdf_url":"https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-13-500","source":{"id":"https://openalex.org/S28614077","display_name":"BMC Genomics","issn_l":"1471-2164","issn":["1471-2164"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"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 Genomics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-13-500","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033048234","display_name":"Abdou ElSharawy","orcid":"https://orcid.org/0000-0002-5089-9435","observed_orcids":["https://orcid.org/0000-0002-5089-9435"]},"institutions":[{"id":"https://openalex.org/I32021983","display_name":"Christian-Albrechts-Universit\u00e4t zu Kiel","ror":"https://ror.org/04v76ef78","country_code":"DE","type":"education","lineage":["https://openalex.org/I32021983"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Abdou ElSharawy","raw_affiliation_strings":["Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany","institution_ids":["https://openalex.org/I32021983"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069310988","display_name":"Jason B. Warner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jason Warner","raw_affiliation_strings":["RainDance Technologies, Inc., Lexington, Massachusetts, USA","RainDance Technologies, Inc., Lexington, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"RainDance Technologies, Inc., Lexington, Massachusetts, USA","institution_ids":[]},{"raw_affiliation_string":"RainDance Technologies, Inc., Lexington, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108671846","display_name":"Jeff Olson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jeff Olson","raw_affiliation_strings":["RainDance Technologies, Inc., Lexington, Massachusetts, USA","RainDance Technologies, Inc., Lexington, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"RainDance Technologies, Inc., Lexington, Massachusetts, USA","institution_ids":[]},{"raw_affiliation_string":"RainDance Technologies, Inc., Lexington, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082294371","display_name":"Michael F\u00f6rster","orcid":"https://orcid.org/0000-0001-9927-5124","observed_orcids":["https://orcid.org/0000-0001-9927-5124"]},"institutions":[{"id":"https://openalex.org/I32021983","display_name":"Christian-Albrechts-Universit\u00e4t zu Kiel","ror":"https://ror.org/04v76ef78","country_code":"DE","type":"education","lineage":["https://openalex.org/I32021983"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Michael Forster","raw_affiliation_strings":["Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany","institution_ids":["https://openalex.org/I32021983"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003270775","display_name":"Markus B. Schilhabel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32021983","display_name":"Christian-Albrechts-Universit\u00e4t zu Kiel","ror":"https://ror.org/04v76ef78","country_code":"DE","type":"education","lineage":["https://openalex.org/I32021983"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Markus B Schilhabel","raw_affiliation_strings":["Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany","institution_ids":["https://openalex.org/I32021983"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045067310","display_name":"Darren R. Link","orcid":"https://orcid.org/0000-0002-3203-5705","observed_orcids":["https://orcid.org/0000-0002-3203-5705"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Darren R Link","raw_affiliation_strings":["RainDance Technologies, Inc., Lexington, Massachusetts, USA","RainDance Technologies, Inc., Lexington, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"RainDance Technologies, Inc., Lexington, Massachusetts, USA","institution_ids":[]},{"raw_affiliation_string":"RainDance Technologies, Inc., Lexington, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089057275","display_name":"Stefan Rose\u2010John","orcid":"https://orcid.org/0000-0002-7519-3279","observed_orcids":["https://orcid.org/0000-0002-7519-3279"]},"institutions":[{"id":"https://openalex.org/I32021983","display_name":"Christian-Albrechts-Universit\u00e4t zu Kiel","ror":"https://ror.org/04v76ef78","country_code":"DE","type":"education","lineage":["https://openalex.org/I32021983"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefan Rose-John","raw_affiliation_strings":["Institute of Biochemistry, Christian-Albrechts-University, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Biochemistry, Christian-Albrechts-University, Kiel, Germany","institution_ids":["https://openalex.org/I32021983"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101804978","display_name":"Stefan Schreiber","orcid":"https://orcid.org/0000-0003-1065-5003","observed_orcids":["https://orcid.org/0000-0003-1065-5003","https://orcid.org/0009-0007-1056-1636"]},"institutions":[{"id":"https://openalex.org/I32021983","display_name":"Christian-Albrechts-Universit\u00e4t zu Kiel","ror":"https://ror.org/04v76ef78","country_code":"DE","type":"education","lineage":["https://openalex.org/I32021983"]},{"id":"https://openalex.org/I4210112713","display_name":"University Hospital Schleswig-Holstein","ror":"https://ror.org/01tvm6f46","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210112713"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefan Schreiber","raw_affiliation_strings":["First Medical Clinic, University Hospital, Kiel, Schleswig-Holstein, Germany","Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany","First Medical Clinic, University Hospital, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Medical Clinic, University Hospital, Kiel, Schleswig-Holstein, Germany","institution_ids":["https://openalex.org/I4210112713"]},{"raw_affiliation_string":"Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany","institution_ids":["https://openalex.org/I32021983"]},{"raw_affiliation_string":"First Medical Clinic, University Hospital, Kiel, Germany","institution_ids":["https://openalex.org/I4210112713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054564152","display_name":"Philip C Rosenstiel","orcid":"https://orcid.org/0000-0002-9692-8828","observed_orcids":["https://orcid.org/0000-0002-9692-8828"]},"institutions":[{"id":"https://openalex.org/I32021983","display_name":"Christian-Albrechts-Universit\u00e4t zu Kiel","ror":"https://ror.org/04v76ef78","country_code":"DE","type":"education","lineage":["https://openalex.org/I32021983"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Philip Rosenstiel","raw_affiliation_strings":["Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany","institution_ids":["https://openalex.org/I32021983"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071993512","display_name":"James Brayer","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"James Brayer","raw_affiliation_strings":["RainDance Technologies, Inc., Lexington, Massachusetts, USA","RainDance Technologies, Inc., Lexington, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"RainDance Technologies, Inc., Lexington, Massachusetts, USA","institution_ids":[]},{"raw_affiliation_string":"RainDance Technologies, Inc., Lexington, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073345578","display_name":"Andr\u00e9 Franke","orcid":"https://orcid.org/0000-0003-1530-5811","observed_orcids":["https://orcid.org/0000-0003-1530-5811"]},"institutions":[{"id":"https://openalex.org/I32021983","display_name":"Christian-Albrechts-Universit\u00e4t zu Kiel","ror":"https://ror.org/04v76ef78","country_code":"DE","type":"education","lineage":["https://openalex.org/I32021983"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Andre Franke","raw_affiliation_strings":["Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany","institution_ids":["https://openalex.org/I32021983"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5073345578"],"corresponding_institution_ids":["https://openalex.org/I32021983"],"apc_list":{"value":3090,"currency":"USD","value_usd":3090},"apc_paid":{"value":3090,"currency":"USD","value_usd":3090},"fwci":2.2011,"has_fulltext":true,"cited_by_count":33,"citation_normalized_percentile":{"value":0.88299448,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"13","issue":"1","first_page":"500","last_page":"500"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6904000043869019,"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":0.6904000043869019,"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":0.26899999380111694,"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":0.012600000016391277,"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/targeted-next-generation-sequencing","display_name":"targeted next-generation sequencing","score":0.9100000262260437},{"id":"https://openalex.org/keywords/whole-genome-amplification","display_name":"whole genome amplification","score":0.9210000038146973},{"id":"https://openalex.org/keywords/variant-calling","display_name":"variant calling","score":0.8190000057220459},{"id":"https://openalex.org/keywords/sample-pooling","display_name":"sample pooling","score":0.8119999766349792},{"id":"https://openalex.org/keywords/sample-multiplexing","display_name":"sample multiplexing","score":0.8259999752044678},{"id":"https://openalex.org/keywords/genotype-concordance","display_name":"genotype concordance","score":0.7350000143051147},{"id":"https://openalex.org/keywords/mendelian-inheritance","display_name":"Mendelian inheritance","score":0.9179999828338623},{"id":"https://openalex.org/keywords/cancer-genes","display_name":"cancer genes","score":0.7200000286102295},{"id":"https://openalex.org/keywords/low-frequency-variants","display_name":"low-frequency variants","score":0.5580000281333923}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.720028281211853},{"id":"https://openalex.org/C177580304","wikidata":"https://www.wikidata.org/wiki/Q1147298","display_name":"International HapMap Project","level":5,"score":0.7044878005981445},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6018669009208679},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5329523682594299},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.46361714601516724},{"id":"https://openalex.org/C2781188995","wikidata":"https://www.wikidata.org/wiki/Q6934982","display_name":"Multiplex","level":2,"score":0.457952618598938},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.44791823625564575},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.42051732540130615},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.35867613554000854},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2573203444480896}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","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":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D052138","descriptor_name":"Genes, Neoplasm","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060148","descriptor_name":"HapMap Project","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060885","descriptor_name":"Multiplex Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/1471-2164-13-500","doi":"https://doi.org/10.1186/1471-2164-13-500","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2164-13-500","pdf_url":"https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-13-500","source":{"id":"https://openalex.org/S28614077","display_name":"BMC Genomics","issn_l":"1471-2164","issn":["1471-2164"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"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 Genomics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2537006","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3534403","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3534403","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3534403","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 Genomics","raw_type":"Text"},{"id":"pmid:22994565","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22994565","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 genomics","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:6abaff6e810246c699d906252905b4a4","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/6abaff6e810246c699d906252905b4a4","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"BMC Genomics, Vol 13, Iss 1, p 500 (2012)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/1471-2164-13-500","doi":"https://doi.org/10.1186/1471-2164-13-500","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2164-13-500","pdf_url":"https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-13-500","source":{"id":"https://openalex.org/S28614077","display_name":"BMC Genomics","issn_l":"1471-2164","issn":["1471-2164"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"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 Genomics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2670178564","display_name":"REvolutionary Approaches and Devices for Nucleic Acid Analysis","funder_award_id":"201418","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G4760961572","display_name":null,"funder_award_id":"FP7/2007\u20132013","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320326641","display_name":"Exzellenzclusters Entz\u00fcndungsforschung","ror":"https://ror.org/00ygmry26"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2053734053.pdf","grobid_xml":"https://content.openalex.org/works/W2053734053.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W135431704","https://openalex.org/W1980991473","https://openalex.org/W1986474467","https://openalex.org/W1988709269","https://openalex.org/W2012016911","https://openalex.org/W2048844098","https://openalex.org/W2061596350","https://openalex.org/W2100148983","https://openalex.org/W2105103362","https://openalex.org/W2106779017","https://openalex.org/W2107233609","https://openalex.org/W2107916366","https://openalex.org/W2108234281","https://openalex.org/W2113649367","https://openalex.org/W2114752404","https://openalex.org/W2115586943","https://openalex.org/W2118526609","https://openalex.org/W2120627772","https://openalex.org/W2124649685","https://openalex.org/W2125418992","https://openalex.org/W2133980123","https://openalex.org/W2138603354","https://openalex.org/W2143162599","https://openalex.org/W2158480761","https://openalex.org/W2167372793","https://openalex.org/W2169002484","https://openalex.org/W2171777347","https://openalex.org/W2616754551","https://openalex.org/W4240237951"],"related_works":["https://openalex.org/W2029565796","https://openalex.org/W2126480703","https://openalex.org/W4380148277","https://openalex.org/W2114599744","https://openalex.org/W3080665543","https://openalex.org/W2740333682","https://openalex.org/W2753205179","https://openalex.org/W1489667487","https://openalex.org/W4416607991","https://openalex.org/W2104904589"],"abstract_inverted_index":{"BACKGROUND:":[0],"Many":[1],"hypothesis-driven":[2],"genetic":[3],"studies":[4,223],"require":[5],"the":[6,16,28,65,99,133,146,166,174,184,192,208],"ability":[7,185,209],"to":[8,18,49,186,197,210,219],"comprehensively":[9],"and":[10,86,114,117,176,207,224,231],"efficiently":[11],"target":[12,50],"specific":[13],"regions":[14],"of":[15,30,67,78,98,124,132,135,153,169,171],"genome":[17,32],"detect":[19,162,187],"sequence":[20,110],"variations.":[21],"Often,":[22],"sample":[23,90,154,204],"availability":[24],"is":[25],"limited":[26],"requiring":[27],"use":[29,211],"whole":[31],"amplification":[33],"(WGA).":[34],"We":[35,88,159,181],"evaluated":[36],"a":[37],"high-throughput":[38],"microdroplet-based":[39],"PCR":[40],"approach":[41,206],"in":[42,58,165],"combination":[43],"with":[44],"next":[45],"generation":[46],"sequencing":[47],"(NGS)":[48],"384":[51],"discrete":[52],"exons":[53],"from":[54,72],"373":[55],"genes":[56],"involved":[57],"cancer.":[59],"In":[60],"our":[61],"evaluation,":[62],"we":[63],"compared":[64],"performance":[66,111],"six":[68],"non-amplified":[69,113],"gDNA":[70],"samples":[71,80,116,147,194],"two":[73],"HapMap":[74],"family":[75],"trios.":[76],"Three":[77],"these":[79],"were":[81],"also":[82,182],"preamplified":[83,115],"by":[84],"WGA":[85,212],"evaluated.":[87],"tested":[89,100],"pooling":[91,157],"or":[92,156],"multiplexing":[93],"strategies":[94,121],"at":[95,130,227],"different":[96,119],"stages":[97],"targeted":[101],"NGS":[102,215],"(T-NGS)":[103],"workflow.":[104],"RESULTS:":[105],"The":[106,139],"results":[107],"demonstrated":[108,183],"comparable":[109],"between":[112,118,173],"indexing":[120],"[sequence":[122],"specificity":[123],"66.0%":[125],"\u00b1":[126,137,150],"3.4%,":[127],"uniformity":[128],"(coverage":[129],"0.2\u00d7":[131],"mean)":[134],"85.6%":[136],"0.6%].":[138],"average":[140],"genotype":[141],"concordance":[142],"maintained":[143],"across":[144],"all":[145],"was":[148],"99.5%":[149],"0.4%,":[151],"regardless":[152],"type":[155],"strategy.":[158],"did":[160],"not":[161],"any":[163],"errors":[164],"Mendelian":[167],"patterns":[168],"inheritance":[170],"genotypes":[172],"parents":[175],"offspring":[177],"within":[178,191],"each":[179],"trio.":[180],"minor":[188],"allele":[189],"frequencies":[190,230],"pooled":[193],"that":[195],"conform":[196],"predicted":[198],"models.":[199],"CONCLUSION:":[200],"Our":[201],"described":[202],"PCR-based":[203],"multiplex":[205],"material":[213],"for":[214],"may":[216],"enable":[217],"researchers":[218],"perform":[220],"deep":[221],"resequencing":[222],"explore":[225],"variants":[226],"very":[228],"low":[229],"cost.":[232]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":4}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}