ArticleNature communications2022
Whole genome sequence analysis of blood lipid levels in >66,000 individuals.
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In one paragraph
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
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51citing papers in PubMed, 3 pooled it
15.0field-weighted citation impact, top 1% of its field
What it found
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Who cites it
51 citing papers in PubMed, 3 syntheses or guidelines pooled it, 73 citations in OpenAlex.
- Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.Genome biology · 2025Pooled it
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis.Nature communications · 2023Pooled it
- Genome sequencing identifies monogenic causes in adults with metabolic diseases.Journal of the Endocrine Society · 2026Article
- Decoding common and rare noncoding variant effects across cellular and developmental contexts.Nature genetics · 2026Article
- MetaSTAARlite: an all-in-one tool for biobank-scale whole-genome sequencing meta-analysis.Nature computational science · 2026Article
- Associations of social isolation and loneliness with neurological disorders, psychiatric disorders, brain structures and behavioural phenotypes among UK Biobank participants.Nature communications · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Fifteen Years of the Genome Analysis Toolkit as the De Facto Standard in Short-Read Variant Calling.International journal of molecular sciences · 2026Review
- Application of the STAAR framework in detecting rare variant associations with Alzheimer disease and related dementias: Insights and implications.HGG advances · 2026Article
- Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes.medRxiv : the preprint server for health sciences · 2026Article
- cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.Nature methods · 2026Article
- Genetic Architecture of N-Terminal Pro-B-Type Natriuretic Peptide in a Multiancestry Study Population.Circulation. Genomic and precision medicine · 2026Article
- Leveraging large-scale biobanks for therapeutic target discovery.HGG advances · 2026Article
- A novel two-sample Mendelian randomization framework integrating common and rare variants: application to assess the effect of HDL-C on preeclampsia risk.Briefings in bioinformatics · 2026Article
- A scalable framework for identifying allelic series from summary statistics.American journal of human genetics · 2025Article
- Whole-genome Sequence Analysis Revealed Novel Subjective Cognitive Decline-associated Genes in 10,763 Chinese.Genomics, proteomics & bioinformatics · 2025Article
- The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.American journal of human genetics · 2025Article
- Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.Annals of human genetics · 2025Review
- Article
Corrections and comments
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Authors and funding
86 authors at 20 institutions in 8 countries.
Margaret Sunitha SelvarajCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, 02114, USA.ORCID 0000-0002-2751-9254
Xihao LiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA.ORCID 0000-0001-8151-0106
Zilin LiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA.ORCID 0000-0003-1521-8945
Akhil PampanaProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.ORCID 0000-0002-4167-0540
David Y ZhangDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID 0000-0003-1377-9829
Joseph ParkDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID 0000-0002-3313-641X
Stella AslibekyanDepartment of Epidemiology, University of Alabama at Birmingham School of Public Health, Birmingham, AL, USA.
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.ORCID 0000-0002-3409-1110
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.ORCID 0000-0001-8509-148X
Brian E CadeDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-1424-0673
Lee-Ming ChuangDepartment of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0003-0978-2662
Ren-Hua ChungInstitute of Population Health Sciences, National Health Research Institutes, Zhunan, 350, Taiwan.ORCID 0000-0002-9835-6333
Joanne E CurranDepartment of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, 78520, USA.ORCID 0000-0002-6898-155X
Lisa de las FuentesDepartment of Medicine, Cardiovascular Division, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-4689-325X
Paul S de VriesHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Ravindranath DuggiralaDepartment of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, 78520, USA.
Barry I FreedmanDepartment of Internal Medicine, Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, 27157, USA.ORCID 0000-0003-0275-5530
Mariaelisa GraffDepartment of Epidemiology, UNC Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0001-6380-1735
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID 0000-0002-5264-5068
Nancy Heard-CostaDepartment of Neurology, Boston university School of Medicine, Boston, MA, USA.ORCID 0000-0001-9730-0306
Bertha HidalgoDepartment of Epidemiology, University of Alabama at Birmingham School of Public Health, Birmingham, AL, USA.
Chii-Min HwuSection of Endocrinology and Metabolism, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.ORCID 0000-0002-8209-9627
Marguerite R IrvinDepartment of Epidemiology, University of Alabama at Birmingham School of Public Health, Birmingham, AL, USA.
Tanika N KellyDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, 70112, USA.
Brian G KralDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.ORCID 0000-0001-9493-2084
Leslie LangeDivision of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Xiaohui LiThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Martin LisaDepartment of Medicine, George Washington University, Washingron, DC, USA.ORCID 0000-0003-4352-0914
Steven A LubitzCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, 02114, USA.ORCID 0000-0002-9599-4866
Ani W ManichaikulDepartment of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
Preuss MichaelThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-5266-8465
May E MontasserDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-9558-5456
Alanna C MorrisonHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0001-6381-4296
Take NaseriMinistry of Health, Government of Samoa, Samoa, USA.
Jeffrey R O'ConnellDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
Nicholette D PalmerDepartment of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, 27157, USA.ORCID 0000-0001-8883-2511
Patricia A PeyserDepartment of Epidemiology, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID 0000-0002-9717-8459
Muagututia S ReupenaLutia i Puava ae Mapu i Fagalele, Apia, Samoa.
Jennifer A SmithDepartment of Epidemiology, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID 0000-0002-3575-5468
Xiao SunDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, 70112, USA.ORCID 0000-0001-8802-2957
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Russell P TracyDepartments of Pathology & Laboratory Medicine and Biochemistry, Larner College of Medicine at the University of Vermont, Colchester, VT, USA.
Michael Y TsaiDepartment of Laboratory Medicine and Pathology, University of Minneosta, Minneapolis, MN, USA.
Zhe WangThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-8046-4969
Yuxuan WangDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.ORCID 0000-0001-9117-0619
Wei BaoInstitute of Public Health, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230026, China.
John T WilkinsDepartment of Medicine (Cardiology) and Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Lisa R YanekDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.ORCID 0000-0001-7117-1075
Wei ZhaoDepartment of Epidemiology, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID 0000-0001-7388-0692
Donna K ArnettDean's Office, University of Kentucky College of Public Health, Lexington, KY, USA.ORCID 0000-0003-2219-657X
John BlangeroDepartment of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, 78520, USA.ORCID 0000-0001-6250-5723
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Donald W BowdenDepartment of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, 27157, USA.
Yii-Der Ida ChenLundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Adolfo CorreaDepartment of Population Health Science, University of Mississippi Medical Center, Jackson, MS, USA.
L Adrienne CupplesDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.ORCID 0000-0003-0273-7965
Susan K DutcherThe McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63108, USA.ORCID 0000-0001-5689-5753
Patrick T EllinorCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, 02114, USA.ORCID 0000-0002-2067-0533
Myriam FornageBrown Foundation Institute of Molecular Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, 7722, USA.ORCID 0000-0003-0677-8158
Stacey GabrielBroad Institute, Cambridge, MA, 02142, USA.
Soren GermerNew York Genome Center, New York, NY, 10013, USA.ORCID 0000-0002-6038-8508
Richard GibbsBaylor College of Medicine Human Genome Sequencing Center, Houston, TX, 77030, USA.
Jiang HeDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, 70112, USA.
Robert C KaplanDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Sharon L R KardiaDepartment of Epidemiology, University of Michigan, Ann Arbor, MI, 48109, USA.
Ryan KimPsomagen, Inc. (formerly Macrogen USA), Rockville, MD, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.ORCID 0000-0002-7986-8560
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-8532-5087
Karine A Viaud-MartinezIllumina Laboratory Services, Illumina. Inc, San Diego, 92122, USA.
Rasika A MathiasDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.ORCID 0000-0002-2282-9042
Stephen T McGarveyDepartment of Epidemiology, International Health Institute, Brown University, Providence, RI, USA.ORCID 0000-0003-1233-6970
Braxton D MitchellDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
Deborah NickersonUniversity of Washington, Department of Genome Sciences, Seattle, WA, 98195, USA.
Kari E NorthDepartment of Epidemiology, UNC Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-8903-0366
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.ORCID 0000-0002-7278-2190
Susan RedlineDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Alexander P ReinerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.ORCID 0000-0002-1427-4470
Ramachandran S VasanSections of Preventive medicine and Epidemiology, Cardiovascular medicine, Department of Medicine, Boston University School of Medicine, Boston, MA, USA.ORCID 0000-0001-7357-5970
Stephen S RichDepartment of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.ORCID 0000-0003-3872-7793
Cristen WillerUniversity of Michigan, Internal Medicine, Ann Arbor, MI, 48109, USA.ORCID 0000-0001-5645-4966
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Daniel J RaderDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID 0000-0002-9245-9876
Xihong LinProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.ORCID 0000-0001-7067-7752
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Gina M PelosoDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA. gpeloso@bu.edu.ORCID 0000-0002-5355-8636
Pradeep NatarajanCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, 02114, USA. pnatarajan@mgh.harvard.edu.ORCID 0000-0001-8402-7435
University of Washington · USUniversity of Maryland, Baltimore · USBrigham and Women's Hospital · USUniversity of Michigan · USBaylor College of Medicine · USUniversity of Colorado Denver · USJohns Hopkins University · USBroad Institute · USNew York Genome Center · USNational Institutes of Health · USBoston University · USHarvard University · USStanford University · USThe University of Texas Rio Grande Valley · USUniversity of Pittsburgh · USEmory University · USIcahn School of Medicine at Mount Sinai · USUniversity of Alabama at Birmingham · USUniversity of North Carolina at Chapel Hill · USWashington University in St. Louis · US
Funding
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3MTranslational Research CoreP30DK020541 · NIDDK · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI STREAMSON C CHUA · 2015 to 2026
$27.7MPEDIGREE ANALYSIS OF LIPOPROTEIN PHENOTYPESP01HL045522 · NHLBI · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI BLANGERO, JOHN · 1991 to 2012
$27.6MTranslating Molecular and Clinical Data to Population Lung Cancer Risk AssessmentU19CA203654 · NCI · UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR · PI Christopher I. Amos, Rayjean J. Hung · 2017 to 2026
$23.7MPolygenic Risk Scores for Diverse Populations - Bridging Research and Clinical CareR01HL151152 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Christy Leigh Avery, Jennifer Below · 2020 to 2026
$12.3MGenome-wide Search for CVD Gene-Environment InteractionsU01HL072515 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2002 to 2008
$11.2MStatistical Methods for Analysis of Massive Genetic and Genomic Data in Cancer ResearchR35CA197449 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2015 to 2026
$10.9MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MWhole Genome Sequencing to Identify Causal Genetic Variants Influencing CVD RiskR01HL113323 · NHLBI · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI BLANGERO, JOHN, CURRAN, JOANNE E. · 2012 to 2016
$8.2MIntegrated cellular, mouse and human research on a novel missense variant influencing adiposity in SamoansR01HL093093 · NHLBI · BROWN UNIVERSITY · PI MCGARVEY, STEPHEN T. · 2009 to 2019
$8.2MGenetic Epidemiology of Blood Pressure InterventionU01HL072507 · NHLBI · TULANE UNIVERSITY OF LOUISIANA · PI HE, JIANG · 2002 to 2008
$7.6MUsing genetic variation to study biology of blood lipids & coronary heart diseaseR01HL127564 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Pradeep Natarajan, Gina Marie Peloso · 2015 to 2026
$7.3MBLRD VA I01 BX005831CSRD VA I01 CX001737NCI NIH HHS R35 CA197449NCI NIH HHS T32 CA154274NCI NIH HHS U19 CA203654NHGRI NIH HHS U01 HG009088NHLBI NIH HHS K01 HL135405NHLBI NIH HHS K08 HL141601NHLBI NIH HHS P01 HL045522NHLBI NIH HHS R01 HL087263NHLBI NIH HHS R01 HL090682NHLBI NIH HHS R01 HL093093NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL113323NHLBI NIH HHS R01 HL113338NHLBI NIH HHS R01 HL121007NHLBI NIH HHS R01 HL127564NHLBI NIH HHS R01 HL135242NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL140570NHLBI NIH HHS R01 HL142711NHLBI NIH HHS R01 HL148050NHLBI NIH HHS R01 HL148565NHLBI NIH HHS R01 HL151152NHLBI NIH HHS R01 HL151283NHLBI NIH HHS R01 HL153805NHLBI NIH HHS R01 HL157635NHLBI NIH HHS R01 HL163560NHLBI NIH HHS R03 HL154284NHLBI NIH HHS R35 HL135818NHLBI NIH HHS U01 HL072507NHLBI NIH HHS U01 HL072515NIA NIH HHS K01 AG059898NIA NIH HHS R01 AG018728NIDDK NIH HHS P30 DK020541NIDDK NIH HHS U01 DK085524NIEHS NIH HHS P30 ES010126NIH HHS S10 OD026880NIH HHS S10 OD030463NIMH NIH HHS R01 MH078111NIMH NIH HHS R01 MH078143NIMH NIH HHS R01 MH083824
Abstract
Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated alleles using whole genome sequencing (WGS), partly due to limited sample sizes, ancestral diversity, and interpretation of clinical significance. Among 66,329 ancestrally diverse (56% non-European) participants, we associate 428M variants from deep-coverage WGS with lipid levels; ~400M variants were not assessed in prior lipids genetic analyses. We find multiple lipid-related genes strongly associated with blood lipids through analysis of common and rare coding variants. We discover several associated rare non-coding variants, largely at Mendelian lipid genes. Notably, we observe rare LDLR intronic variants associated with markedly increased LDL-C, similar to rare LDLR exonic variants. In conclusion, we conducted a systematic whole genome scan for blood lipids expanding the alleles linked to lipids for multiple ancestries and characterize a clinically-relevant rare non-coding variant model for lipids.
Indexed as
Genome-Wide Association StudyLipidsAllelesCholesterol, LDLHumansWhole Genome SequencingCholesterol, LDLLipids
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