{"id":"https://openalex.org/W2878283013","doi":"https://doi.org/10.1161/circgen.117.002070","title":"Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans","display_name":"Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans","publication_year":2018,"publication_date":"2018-07-01","ids":{"openalex":"https://openalex.org/W2878283013","doi":"https://doi.org/10.1161/circgen.117.002070","mag":"2878283013","pmid":"https://pubmed.ncbi.nlm.nih.gov/29987113","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6050033"},"language":"en","primary_location":{"id":"doi:10.1161/circgen.117.002070","doi":"https://doi.org/10.1161/circgen.117.002070","is_oa":false,"landing_page_url":"https://doi.org/10.1161/circgen.117.002070","pdf_url":null,"source":{"id":"https://openalex.org/S4210202128","display_name":"Circulation Genomic and Precision Medicine","issn_l":"2574-8300","issn":["2574-8300"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Circulation: Genomic and Precision Medicine","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2878283013"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.biorxiv.org/content/biorxiv/early/2017/12/18/235887.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5005889696","display_name":"Sumeet A. Khetarpal","orcid":"https://orcid.org/0009-0000-8269-6889","observed_orcids":["https://orcid.org/0009-0000-8269-6889"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sumeet A. Khetarpal","raw_affiliation_strings":["Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","Sumeet A. Khetarpal Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.) Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","institution_ids":[]},{"raw_affiliation_string":"Sumeet A. Khetarpal Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.) Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020332361","display_name":"Paul L. Babb","orcid":"https://orcid.org/0009-0004-4901-2659","observed_orcids":["https://orcid.org/0009-0004-4901-2659"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paul L. Babb","raw_affiliation_strings":["Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Systems Pharmacology and Translational Therapeutics (P.L.B., B.F.V.)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Systems Pharmacology and Translational Therapeutics (P.L.B., B.F.V.)","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014868299","display_name":"Wei Zhao","orcid":"https://orcid.org/0000-0002-8301-9297","observed_orcids":["https://orcid.org/0000-0002-8301-9297"]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wei Zhao","raw_affiliation_strings":["Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Albert Einstein College of Medicine, Bronx, NY (W.Z.)","Wei Zhao Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.) Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.) Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Albert Einstein College of Medicine, Bronx, NY (W.Z.)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","institution_ids":[]},{"raw_affiliation_string":"Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Albert Einstein College of Medicine, Bronx, NY (W.Z.)","institution_ids":["https://openalex.org/I129975664","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Wei Zhao Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.) Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.) Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Albert Einstein College of Medicine, Bronx, NY (W.Z.)","institution_ids":["https://openalex.org/I129975664","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086649578","display_name":"William F. Hancock-Cerutti","orcid":"https://orcid.org/0000-0002-8051-1112","observed_orcids":["https://orcid.org/0000-0002-8051-1112"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William F. Hancock-Cerutti","raw_affiliation_strings":["Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","William F. Hancock-Cerutti Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.) Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","institution_ids":[]},{"raw_affiliation_string":"William F. Hancock-Cerutti Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.) Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101764990","display_name":"Christopher D. Brown","orcid":"https://orcid.org/0000-0002-3785-5008","observed_orcids":["https://orcid.org/0000-0002-3785-5008"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christopher D. Brown","raw_affiliation_strings":["Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Christopher D. Brown Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.) Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Christopher D. Brown Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.) Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","institution_ids":[]},{"raw_affiliation_string":"Department of Medicine (S.A.K., W.Z., W.F.H.-C., D.J.R.)","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067149045","display_name":"Daniel James Rader","orcid":"https://orcid.org/0000-0002-9245-9876","observed_orcids":["https://orcid.org/0000-0002-9245-9876"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Daniel J. Rader","raw_affiliation_strings":["Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.)","Institute for Translational Medicine and Therapeutics (D.J.R., B.F.V.)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Genetics (S.A.K., P.L.B., W.Z., W.F.H.-C., C.D.B., D.J.R.)","institution_ids":[]},{"raw_affiliation_string":"Institute for Translational Medicine and Therapeutics (D.J.R., B.F.V.)","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033617328","display_name":"Benjamin F. Voight","orcid":"https://orcid.org/0000-0002-6205-9994","observed_orcids":["https://orcid.org/0000-0002-6205-9994"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Benjamin F. Voight","raw_affiliation_strings":["Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","Department of Systems Pharmacology and Translational Therapeutics (P.L.B., B.F.V.)","Institute for Translational Medicine and Therapeutics (D.J.R., B.F.V.)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Systems Pharmacology and Translational Therapeutics (P.L.B., B.F.V.)","institution_ids":[]},{"raw_affiliation_string":"Institute for Translational Medicine and Therapeutics (D.J.R., B.F.V.)","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5033617328","https://openalex.org/A5067149045"],"corresponding_institution_ids":["https://openalex.org/I79576946"],"apc_list":null,"apc_paid":null,"fwci":0.3939,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.57398942,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"11","issue":"7","first_page":"e002070","last_page":"e002070"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.8140000104904175,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.8140000104904175,"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.10999999940395355,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.01510000042617321,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hdl-cholesterol","display_name":"HDL cholesterol","score":0.9919999837875366},{"id":"https://openalex.org/keywords/targeted-sequencing","display_name":"targeted sequencing","score":0.878000020980835},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.6209999918937683},{"id":"https://openalex.org/keywords/causal-variants","display_name":"causal variants","score":0.6209999918937683},{"id":"https://openalex.org/keywords/cholesteryl-ester-transfer-protein","display_name":"cholesteryl ester transfer protein","score":0.7580000162124634},{"id":"https://openalex.org/keywords/galnt2","display_name":"GALNT2","score":0.9070000052452087},{"id":"https://openalex.org/keywords/endothelial-lipase","display_name":"endothelial lipase","score":0.9020000100135803},{"id":"https://openalex.org/keywords/apoa5","display_name":"APOA5","score":0.9089999794960022},{"id":"https://openalex.org/keywords/apolipoprotein-c-iii","display_name":"apolipoprotein C-III","score":0.9739999771118164},{"id":"https://openalex.org/keywords/scavenger-receptor-class-b-type-i","display_name":"scavenger receptor class B type I","score":0.9860000014305115},{"id":"https://openalex.org/keywords/complex-traits","display_name":"complex traits","score":0.5090000033378601}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6588401198387146},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6524317264556885},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.6221022605895996},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5669063925743103},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.48945581912994385},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4677427411079407},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.46290692687034607},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4417024254798889},{"id":"https://openalex.org/C160798450","wikidata":"https://www.wikidata.org/wiki/Q4230870","display_name":"Concordance","level":2,"score":0.4320949912071228},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.43099191784858704},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.3762463927268982},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.34638842940330505},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.21953073143959045}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008076","descriptor_name":"Cholesterol, HDL","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012045","descriptor_name":"Regulatory Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1161/circgen.117.002070","doi":"https://doi.org/10.1161/circgen.117.002070","is_oa":false,"landing_page_url":"https://doi.org/10.1161/circgen.117.002070","pdf_url":null,"source":{"id":"https://openalex.org/S4210202128","display_name":"Circulation Genomic and Precision Medicine","issn_l":"2574-8300","issn":["2574-8300"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Circulation: Genomic and Precision Medicine","raw_type":"journal-article"},{"id":"doi:10.1101/235887","doi":"https://doi.org/10.1101/235887","is_oa":true,"landing_page_url":"https://doi.org/10.1101/235887","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2017/12/18/235887.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nd","license_id":"https://openalex.org/licenses/cc-by-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmid:29987113","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29987113","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":"Circulation. Genomic and precision medicine","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6050033","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6050033/","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Circ Genom Precis Med","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1101/235887","doi":"https://doi.org/10.1101/235887","is_oa":true,"landing_page_url":"https://doi.org/10.1101/235887","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2017/12/18/235887.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nd","license_id":"https://openalex.org/licenses/cc-by-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1163025123","display_name":"ApoC-III: Structure-Function and Regulation of Triglyceride Metabolism","funder_award_id":"F30HL124967","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G1210397484","display_name":"Epigenetic fine-mapping of cardiometabolic disease loci in the human liver","funder_award_id":"R01HL133218","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G3343993567","display_name":"Genetics of Elevated High Density Lipoprotein Cholesterol","funder_award_id":"R01HL089309","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5597901137","display_name":"Algorithms to identify non-coding mutational burden and disease-relevant pathways","funder_award_id":"R01DK101478","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G8125369108","display_name":"Discovery and Validation of Novel Loci Associated with HDL Function","funder_award_id":"R01HL111398","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G8660232851","display_name":"HDL metabolism: Influence of extracellular lipases","funder_award_id":"R37HL055323","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320323155","display_name":"Chinese Academy of Agricultural Sciences","ror":"https://ror.org/0313jb750"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2878283013.pdf","grobid_xml":"https://content.openalex.org/works/W2878283013.grobid-xml"},"referenced_works_count":78,"referenced_works":["https://openalex.org/W1240353884","https://openalex.org/W1856460279","https://openalex.org/W1912672559","https://openalex.org/W1919257374","https://openalex.org/W1957851970","https://openalex.org/W1980740976","https://openalex.org/W1980991473","https://openalex.org/W1988670106","https://openalex.org/W1989249306","https://openalex.org/W1990430353","https://openalex.org/W1991704577","https://openalex.org/W2007733142","https://openalex.org/W2024405748","https://openalex.org/W2031857626","https://openalex.org/W2046249687","https://openalex.org/W2048760408","https://openalex.org/W2059032482","https://openalex.org/W2059145105","https://openalex.org/W2061604798","https://openalex.org/W2065125274","https://openalex.org/W2076154138","https://openalex.org/W2076357933","https://openalex.org/W2078059415","https://openalex.org/W2086009441","https://openalex.org/W2087588809","https://openalex.org/W2089335658","https://openalex.org/W2094768566","https://openalex.org/W2095680943","https://openalex.org/W2103441770","https://openalex.org/W2104549677","https://openalex.org/W2104570606","https://openalex.org/W2108901155","https://openalex.org/W2111326065","https://openalex.org/W2114029728","https://openalex.org/W2118825330","https://openalex.org/W2119180969","https://openalex.org/W2129952088","https://openalex.org/W2131271579","https://openalex.org/W2133980123","https://openalex.org/W2136078375","https://openalex.org/W2141014201","https://openalex.org/W2143992683","https://openalex.org/W2145187337","https://openalex.org/W2145813488","https://openalex.org/W2148171419","https://openalex.org/W2149813409","https://openalex.org/W2149992227","https://openalex.org/W2150131459","https://openalex.org/W2153118028","https://openalex.org/W2154139219","https://openalex.org/W2157057843","https://openalex.org/W2158007655","https://openalex.org/W2160995259","https://openalex.org/W2161633633","https://openalex.org/W2165605025","https://openalex.org/W2166124982","https://openalex.org/W2168133698","https://openalex.org/W2168533552","https://openalex.org/W2169902960","https://openalex.org/W2189622420","https://openalex.org/W2259938310","https://openalex.org/W2268895451","https://openalex.org/W2286634515","https://openalex.org/W2311223872","https://openalex.org/W2338408404","https://openalex.org/W2345410714","https://openalex.org/W2417483443","https://openalex.org/W2497721881","https://openalex.org/W2609272369","https://openalex.org/W2741959098","https://openalex.org/W2751722940","https://openalex.org/W2761275051","https://openalex.org/W2765954021","https://openalex.org/W2767038995","https://openalex.org/W4210702584","https://openalex.org/W4244383122","https://openalex.org/W4252232449","https://openalex.org/W4292528167"],"related_works":["https://openalex.org/W2561926891","https://openalex.org/W2046249687","https://openalex.org/W2137006915","https://openalex.org/W2338408404","https://openalex.org/W2291801304","https://openalex.org/W2769810473","https://openalex.org/W2891998311","https://openalex.org/W2133019794","https://openalex.org/W2752200415","https://openalex.org/W2104298482"],"abstract_inverted_index":{"Genome-wide":[0],"association":[1],"studies":[2],"have":[3],"uncovered":[4],"common":[5,35],"variants":[6,36],"at":[7],"many":[8,54],"loci":[9],"influencing":[10],"human":[11],"complex":[12],"traits,":[13],"such":[14],"as":[15],"high-density":[16],"lipoprotein":[17],"cholesterol":[18],"(HDL-C).":[19],"However,":[20],"the":[21,24],"contribution":[22],"of":[23,55],"identified":[25],"genes":[26],"is":[27,42],"difficult":[28],"to":[29],"ascertain":[30],"from":[31],"current":[32],"efforts":[33],"interrogating":[34],"with":[37],"small":[38],"effects.":[39],"Thus,":[40],"there":[41],"a":[43],"pressing":[44],"need":[45],"for":[46,50],"scalable,":[47],"cost-effective":[48],"strategies":[49],"uncovering":[51],"causal":[52],"variants,":[53],"which":[56],"may":[57],"be":[58],"rare":[59],"and":[60],"noncoding.":[61]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2018-07-19T00:00:00"}
