SynthesisNature genetics2014
Meta-analysis of gene-level tests for rare variant association.
Open access · greenAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers, 32 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
130citing papers in PubMed, 32 pooled it
19.0field-weighted citation impact, top 1% of its field
What it found
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The trial behind it
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Who cites it
130 citing papers in PubMed, 32 syntheses or guidelines pooled it, 221 citations in OpenAlex.
- Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies.Nature genetics · 2025Pooled it
- Scalable and accurate rare variant meta-analysis with Meta-SAIGE.Nature genetics · 2025Pooled it
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.Nature genetics · 2023Pooled it
- Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.Genome biology · 2022Pooled it
- Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.Hypertension (Dallas, Tex. : 1979) · 2022Pooled it
- Pooled it
- PIAS2-mediated blockade of IFN-β signaling: a basis for sporadic Parkinson disease dementia.Molecular psychiatry · 2021Pooled it
- Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation.Circulation. Genomic and precision medicine · 2020Pooled it
- Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data.Genes · 2020Pooled it
- Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.Biological psychiatry · 2019Pooled it
- Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits.Current protocols in human genetics · 2019Pooled it
- Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.Nature genetics · 2019Pooled it
- Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation.Platelets · 2019Pooled it
- Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes.PLoS genetics · 2018Pooled it
- Improved score statistics for meta-analysis in single-variant and gene-level association studies.Genetic epidemiology · 2018Pooled it
- Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.Nature genetics · 2018Pooled it
- Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.Nature genetics · 2017Pooled it
- Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models.European journal of human genetics : EJHG · 2017Pooled it
- Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans.Human genetics · 2016Pooled it
70 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 8 institutions in 5 countries.
Dajiang J Liu1] Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA. [2].
Gina M Peloso1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [3] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA. [4].
Xiaowei Zhan1] Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA. [2].
Oddgeir L Holmen1] HUNT Research Centre, Department of Public Health and General Practice, Norwegian University of Science and Technology, Levanger, Norway. [2] St. Olav Hospital, Trondheim University Hospital, Trondheim, Norway. [3].
Matthew ZawistowskiCenter for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA.
Shuang FengCenter for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA.
Majid NikpayUniversity of Ottawa Heart Institute, Ottawa, Ontario, Canada.
Paul L Auer1] Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA. [2] School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin, USA.
Anuj Goel1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. [2] Department of Cardiovascular Medicine, University of Oxford, Oxford, UK.
He Zhang1] Division of Cardiology, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA. [2] Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Ulrike Peters1] Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA. [2] Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington, USA.
Martin Farrall1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. [2] Department of Cardiovascular Medicine, University of Oxford, Oxford, UK.
Marju Orho-Melander1] Department of Cardiovascular Medicine, University of Oxford, Oxford, UK. [2] Department of Clinical Sciences, Lund University, Malmö, Sweden.
Charles Kooperberg1] Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA. [2] Department of Biostatistics, University of Washington School of Public Health, Seattle, Washington, USA.
Ruth McPhersonUniversity of Ottawa Heart Institute, Ottawa, Ontario, Canada.
Hugh Watkins1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. [2] Department of Cardiovascular Medicine, University of Oxford, Oxford, UK.
Cristen J Willer1] Division of Cardiology, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA. [2] Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Kristian Hveem1] HUNT Research Centre, Department of Public Health and General Practice, Norwegian University of Science and Technology, Levanger, Norway. [2] Department of Medicine, Levanger Hospital, Nord-Trøndelag Health Trust, Levanger, Norway.
Olle Melander1] Department of Cardiovascular Medicine, University of Oxford, Oxford, UK. [2] Department of Clinical Sciences, Lund University, Malmö, Sweden.
Sekar Kathiresan1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [3] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA. [4] Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA. [5].
Gonçalo R Abecasis1] Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA. [2].
University of Michigan–Ann Arbor · USUniversity of Oxford · GBFred Hutch Cancer Center · USNorwegian University of Science and Technology · NOUniversity of Ottawa · CACenter for Human Genetics · USHarvard University · USLund University · SE
Funding
MULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MUsing genetics to discover mechanisms of myocardial infarctionR01HL109946 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI YUQING Eugene CHEN, Ida Liisa Surakka · 2011 to 2026
$8.9MMore Complete Assessment of DNA Variation in Age-Related Macular DegenerationR01EY022005 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2011 to 2014
$4.7MWomen's Health Initiative Memory Study (WHIMS)N01WH44221 · WH · WAKE FOREST UNIVERSITY HEALTH SCIENCES · 2009 to 2010
$3.1MComputational and statistical models for human geneticsR01HG007022 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2012 to 2016
$3.0MDiscovery of Mendelian Dyslipidemia and Heart Attack Genes Using Exome SequencingR01HL107816 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI KATHIRESAN, SEKAR · 2011 to 2015
$2.7MVANGUARD CENTER FOR WOMEN'S HEALTH INITIATIVEN01WH032111 · WH · EMORY UNIVERSITY · PI WATTS, NELSON · 1993 to 2001
$1.6MMethod to Enhance the Rare Variant Genetic Architecture Analysis in Meta-AnalysesR01HG008983 · NHGRI · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI LIU, DAJIANG · 2016 to 2019
$1.6MWOMENS HEALTH INITIATIVE-N01WH22110N01WH022110 · WH · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ROSS, PRENTICE · 1992 to 2006
$1.2MVANGUARD CENTER FOR WOMEN'S HEALTH INITIATIVEN01WH032105 · WH · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI LEWIS, CORA E · 1993 to 2000
$1.2MVANGUARD CENTER FOR WOMENS HEALTH INITIATIVEN01WH032100 · WH · FRED HUTCHINSON CANCER RESEARCH CENTER · PI BERESFORD, SHIRLEY AA · 1993 to 2001
$1.1MCIHR MOP-2380941CIHR MOP-77682CIHR MOP-82810European Research Council 282255NEI NIH HHS R01 EY022005NEI NIH HHS R01EY022005NHGRI NIH HHS R01 HG007022NHGRI NIH HHS R01HG007022NHGRI NIH HHS R01 HG008983NHLBI NIH HHS R01 HL107816NHLBI NIH HHS R01HL107816NHLBI NIH HHS R01 HL109946NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01HL117626NHLBI NIH HHS T32 HL007208NHLBI NIH HHS T32HL007208NIDA NIH HHS R21 DA040177Wellcome Trust 090532WHI NIH HHS N01 WH022110WHI NIH HHS N01WH24152WHI NIH HHS N01WH32100-2WHI NIH HHS N01WH32105-6WHI NIH HHS N01WH32108-9WHI NIH HHS N01WH32111-13WHI NIH HHS N01WH32115WHI NIH HHS N01WH32118-32119WHI NIH HHS N01WH32122WHI NIH HHS N01WH42107-26WHI NIH HHS N01WH42129-32WHI NIH HHS N01WH44221
Abstract
The majority of reported complex disease associations for common genetic variants have been identified through meta-analysis, a powerful approach that enables the use of large sample sizes while protecting against common artifacts due to population structure and repeated small-sample analyses sharing individual-level data. As the focus of genetic association studies shifts to rare variants, genes and other functional units are becoming the focus of analysis. Here we propose and evaluate new approaches for performing meta-analysis of rare variant association tests, including burden tests, weighted burden tests, variable-threshold tests and tests that allow variants with opposite effects to be grouped together. We show that our approach retains useful features from single-variant meta-analysis approaches and demonstrate its use in a study of blood lipid levels in ∼18,500 individuals genotyped with exome arrays.
Indexed as
Genetic VariationMeta-Analysis as TopicResearch DesignData Interpretation, StatisticalExomeGenetic Association StudiesGenetics, PopulationGenotypeHumansLipidsModels, GeneticMonte Carlo MethodLipids
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