ERIC BOERWINKLE to Genome, Human
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Genome, Human.
Connection Strength
5.935
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The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. J Med Genet. 2017 02; 54(2):134-144.
Score: 0.314
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Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 11 24; 17(1):237.
Score: 0.312
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Rare variants analysis using penalization methods for whole genome sequence data. BMC Bioinformatics. 2015 Dec 04; 16:405.
Score: 0.292
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WGSA: an annotation pipeline for human genome sequencing studies. J Med Genet. 2016 Feb; 53(2):111-2.
Score: 0.288
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dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 2013 Sep; 34(9):E2393-402.
Score: 0.247
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Measuring marker information content by the ambiguity of block boundaries observed in dense SNP data. Ann Hum Genet. 2007 Jan; 71(Pt 1):127-40.
Score: 0.154
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Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing. Nat Genet. 2023 Nov; 55(11):1912-1919.
Score: 0.126
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Investigating single nucleotide polymorphism (SNP) density in the human genome and its implications for molecular evolution. Gene. 2003 Jul 17; 312:207-13.
Score: 0.124
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Genome-wide linkage analyses for hypertension genes in two ethnically and geographically diverse populations. Am J Hypertens. 2003 Feb; 16(2):154-7.
Score: 0.120
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Generalized T2 test for genome association studies. Am J Hum Genet. 2002 May; 70(5):1257-68.
Score: 0.113
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Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 Aug 27; 373(6558):1030-1035.
Score: 0.108
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 Feb; 590(7845):290-299.
Score: 0.105
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Peeking under the peaks: following up genome-wide linkage analyses. Circulation. 2000 Oct 17; 102(16):1877-8.
Score: 0.102
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Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 10; 586(7831):763-768.
Score: 0.102
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A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos. Am J Hum Genet. 2020 11 05; 107(5):849-863.
Score: 0.102
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Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 05 02; 104(5):802-814.
Score: 0.092
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.092
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ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. Am J Hum Genet. 2019 03 07; 104(3):410-421.
Score: 0.091
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Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. Hum Genet. 2019 Feb; 138(2):199-210.
Score: 0.091
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Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
Score: 0.091
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The quantitative LOD score: test statistic and sample size for exclusion and linkage of quantitative traits in human sibships. Am J Hum Genet. 1998 Apr; 62(4):962-8.
Score: 0.086
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Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 02 02; 100(2):205-215.
Score: 0.079
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A hybrid computational strategy to address WGS variant analysis in >5000 samples. BMC Bioinformatics. 2016 Sep 10; 17(1):361.
Score: 0.077
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Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. J Med Genet. 2016 07; 53(7):441-9.
Score: 0.075
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 Mar; 37(3):231-234.
Score: 0.073
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.073
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A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet. 2015 Oct; 47(10):1121-1130.
Score: 0.072
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Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC). PLoS One. 2015; 10(7):e0133031.
Score: 0.071
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Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nat Genet. 2015 Jun; 47(6):640-2.
Score: 0.070
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Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.070
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In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res. 2014 Dec 16; 42(22):13534-44.
Score: 0.068
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Trans-ethnic meta-analysis of white blood cell phenotypes. Hum Mol Genet. 2014 Dec 20; 23(25):6944-60.
Score: 0.067
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Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. PLoS One. 2014; 9(1):e84810.
Score: 0.064
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Fine Mapping and Identification of BMI Loci in African Americans. Am J Hum Genet. 2013 Oct 03; 93(4):661-71.
Score: 0.063
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Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet. 2013 Aug; 45(8):899-901.
Score: 0.062
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Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. Genetics. 2012 Sep; 192(1):253-66.
Score: 0.057
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Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012 Jul 06; 337(6090):64-9.
Score: 0.057
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Translational genomics is not a spectator sport: a call to action. Genet Epidemiol. 2012 Feb; 36(2):85-7.
Score: 0.056
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Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43.
Score: 0.055
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The landscape of recombination in African Americans. Nature. 2011 Jul 20; 476(7359):170-5.
Score: 0.054
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Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010 Oct 14; 467(7317):832-8.
Score: 0.051
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Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet. 2010 Oct 01; 19(19):3885-94.
Score: 0.050
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Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet. 2010 Jul; 42(7):579-89.
Score: 0.050
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Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. Am J Epidemiol. 2010 Jan 01; 171(1):14-23.
Score: 0.048
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Genomic susceptibility Loci for brain atrophy, ventricular volume, and leukoaraiosis in hypertensive sibships. Arch Neurol. 2009 Jul; 66(7):847-57.
Score: 0.047
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Genome-wide linkage analysis for uric acid in families enriched for hypertension. Nephrol Dial Transplant. 2009 Aug; 24(8):2414-20.
Score: 0.046
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Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet. 2008 Dec 06; 372(9654):1953-61.
Score: 0.044
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Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies. BMC Med Genet. 2008 Jun 03; 9:49.
Score: 0.043
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Replicating genotype-phenotype associations. Nature. 2007 Jun 07; 447(7145):655-60.
Score: 0.041
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Relevance of genetics and genomics for prevention and treatment of cardiovascular disease: a scientific statement from the American Heart Association Council on Epidemiology and Prevention, the Stroke Council, and the Functional Genomics and Translational Biology Interdisciplinary Working Group. Circulation. 2007 Jun 05; 115(22):2878-901.
Score: 0.040
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An entropy-based genome-wide transmission/disequilibrium test. Hum Genet. 2007 May; 121(3-4):357-67.
Score: 0.040
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A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County, Texas. Diabetes. 2007 Apr; 56(4):1167-73.
Score: 0.039
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Multiple genes for essential-hypertension susceptibility on chromosome 1q. Am J Hum Genet. 2007 Feb; 80(2):253-64.
Score: 0.039
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A genome scan for loci influencing levels and trends of lipoprotein lipid-related traits since childhood: The Bogalusa Heart Study. Atherosclerosis. 2007 Feb; 190(2):248-55.
Score: 0.038
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An updated meta-analysis of genome scans for hypertension and blood pressure in the NHLBI Family Blood Pressure Program (FBPP). Am J Hypertens. 2006 Jan; 19(1):122-7.
Score: 0.037
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Autosomal genome scan for loci linked to blood pressure levels and trends since childhood: the Bogalusa Heart Study. Hypertension. 2005 May; 45(5):954-9.
Score: 0.035
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Genomic susceptibility loci for brain atrophy in hypertensive sibships from the GENOA study. Hypertension. 2005 Apr; 45(4):793-8.
Score: 0.034
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An autosomal genomic scan for loci linked to type 2 diabetes in northern Han Chinese. J Mol Med (Berl). 2005 Mar; 83(3):209-15.
Score: 0.034
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Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height. Nat Commun. 2024 Oct 03; 15(1):8549.
Score: 0.034
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Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. Am J Hum Genet. 2024 Oct 03; 111(10):2129-2138.
Score: 0.034
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Genome scan for hypertension in nonobese African Americans: the National Heart, Lung, and Blood Institute Family Blood Pressure Program. Am J Hypertens. 2004 Sep; 17(9):834-8.
Score: 0.033
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Ancestry-driven metabolite variation provides insights into disease states in admixed populations. Genome Med. 2023 07 17; 15(1):52.
Score: 0.031
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Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension. Stroke. 2003 May; 34(5):1170-5.
Score: 0.030
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A meta-analysis of genome-wide linkage scans for hypertension: the National Heart, Lung and Blood Institute Family Blood Pressure Program. Am J Hypertens. 2003 Feb; 16(2):144-7.
Score: 0.030
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Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome. Genome Res. 2002 Nov; 12(11):1679-86.
Score: 0.029
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A saturated map of common genetic variants associated with human height. Nature. 2022 10; 610(7933):704-712.
Score: 0.029
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Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. Am J Hum Genet. 2021 10 07; 108(10):1836-1851.
Score: 0.027
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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging. Genome Biol. 2021 06 29; 22(1):194.
Score: 0.027
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The trans-ancestral genomic architecture of glycemic traits. Nat Genet. 2021 06; 53(6):840-860.
Score: 0.027
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Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.026
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133.
Score: 0.026
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Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573.
Score: 0.023
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Genetic architecture of lipid traits in the Hispanic community health study/study of Latinos. Lipids Health Dis. 2017 Oct 12; 16(1):200.
Score: 0.021
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1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep. 2017 04 28; 7:45040.
Score: 0.020
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Rare and low-frequency coding variants alter human adult height. Nature. 2017 02 09; 542(7640):186-190.
Score: 0.020
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Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. Nat Genet. 2016 10; 48(10):1162-70.
Score: 0.019
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Directional dominance on stature and cognition in?diverse human populations. Nature. 2015 Jul 23; 523(7561):459-462.
Score: 0.018
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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015 Apr 15; 24(8):2125-37.
Score: 0.017
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Epistasis analysis for quantitative traits by functional regression model. Genome Res. 2014 Jun; 24(6):989-98.
Score: 0.016
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Comprehensive evaluation of imputation performance in African Americans. J Hum Genet. 2012 Jul; 57(7):411-21.
Score: 0.014
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 Jul; 158A(7):1523-5.
Score: 0.014
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Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges. Am J Clin Nutr. 2012 Mar; 95(3):539-47.
Score: 0.014
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Genotype imputation of Metabochip SNPs using a study-specific reference panel of ~4,000 haplotypes in African Americans from the Women's Health Initiative. Genet Epidemiol. 2012 Feb; 36(2):107-17.
Score: 0.014
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A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. PLoS Genet. 2011 Oct; 7(10):e1002322.
Score: 0.014
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Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. Nat Genet. 2011 Sep 11; 43(10):940-7.
Score: 0.014
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Gene-environment interplay in common complex diseases: forging an integrative model?recommendations from an NIH workshop. Genet Epidemiol. 2011 May; 35(4):217-25.
Score: 0.013
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Association studies for next-generation sequencing. Genome Res. 2011 Jul; 21(7):1099-108.
Score: 0.013
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Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet. 2011 Feb 10; 7(2):e1001300.
Score: 0.013
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet. 2010 Nov; 42(11):949-60.
Score: 0.013
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Admixture mapping scans identify a locus affecting retinal vascular caliber in hypertensive African Americans: the Atherosclerosis Risk in Communities (ARIC) study. PLoS Genet. 2010 Apr 15; 6(4):e1000908.
Score: 0.012
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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet. 2009 Nov; 41(11):1191-8.
Score: 0.012
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Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet. 2008 Feb; 40(2):198-203.
Score: 0.011
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Genome-wide linkage scans for loci affecting total cholesterol, HDL-C, and triglycerides: the Family Blood Pressure Program. Hum Genet. 2006 Oct; 120(3):371-80.
Score: 0.010
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Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program. BMC Med Genet. 2006 Mar 01; 7:17.
Score: 0.009
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Combined analysis of genomewide scans for adult height: results from the NHLBI Family Blood Pressure Program. Eur J Hum Genet. 2003 Mar; 11(3):271-4.
Score: 0.008
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Autosomal genome-wide scan for coronary artery calcification loci in sibships at high risk for hypertension. Arterioscler Thromb Vasc Biol. 2002 Mar 01; 22(3):418-23.
Score: 0.007
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Genome-wide linkage analysis reveals evidence of multiple regions that influence variation in plasma lipid and apolipoprotein levels associated with risk of coronary heart disease. Arterioscler Thromb Vasc Biol. 2001 Jun; 21(6):971-8.
Score: 0.007
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Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 2001 May 22; 103(20):2461-8.
Score: 0.007
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Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet. 2000 Oct; 26(2):163-75.
Score: 0.006
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Sequence polymorphisms in the apo(a) gene associated with specific levels of Lp(a) in plasma. Hum Mol Genet. 1995 Feb; 4(2):173-81.
Score: 0.004