Author: Samuli Ripatti

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Preprints

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

• Downloaded 11,087 times
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  • Site-wide: 853
  • In genomics: 61
• Year to date:
  • Site-wide: 1,347
• Since beginning of last month:
  • Site-wide: 17,127

Genetics of 38 blood and urine biomarkers in the UK Biobank

• Downloaded 7,537 times
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  • Site-wide: 1,392
  • In genetics: 38
• Year to date:
  • Site-wide: 2,435
• Since beginning of last month:
  • Site-wide: 2,548

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,602 times
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  • Site-wide: 2,698
  • In genetics: 90
• Year to date:
  • Site-wide: 123,215
• Since beginning of last month:
  • Site-wide: 105,688

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

• Downloaded 3,612 times
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  • Site-wide: 3,801
  • In genetics: 132
• Year to date:
  • Site-wide: 41,071
• Since beginning of last month:
  • Site-wide: 14,286

Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

• Downloaded 3,216 times
• Download rankings, all-time:
  • Site-wide: 4,477
  • In genetics: 171
• Year to date:
  • Site-wide: 37,030
• Since beginning of last month:
  • Site-wide: 103,740

Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

• Downloaded 2,917 times
• Download rankings, all-time:
  • Site-wide: 5,119
  • In genomics: 517
• Year to date:
  • Site-wide: 24,921
• Since beginning of last month:
  • Site-wide: 13,467

Genome-wide association study identifies 48 common genetic variants associated with handedness

• Downloaded 2,711 times
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  • Site-wide: 5,663
  • In genetics: 238
• Year to date:
  • Site-wide: 23,648
• Since beginning of last month:
  • Site-wide: 10,533

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

• Downloaded 2,582 times
• Download rankings, all-time:
  • Site-wide: 6,103
  • In genetics: 256
• Year to date:
  • Site-wide: 25,541
• Since beginning of last month:
  • Site-wide: None

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

• Downloaded 2,108 times
• Download rankings, all-time:
  • Site-wide: 8,245
  • In genomics: 852
• Year to date:
  • Site-wide: 144,327
• Since beginning of last month:
  • Site-wide: None

Cell specific eQTL analysis without sorting cells

• Downloaded 2,015 times
• Download rankings, all-time:
  • Site-wide: 8,806
  • In genetics: 378
• Year to date:
  • Site-wide: 140,810
• Since beginning of last month:
  • Site-wide: None

Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

• Downloaded 1,935 times
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  • Site-wide: 9,336
  • In genetics: 396
• Year to date:
  • Site-wide: 76,705
• Since beginning of last month:
  • Site-wide: 22,997

Refining fine-mapping: effect sizes and regional heritability

• Downloaded 1,620 times
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  • Site-wide: 12,148
  • In genetics: 553
• Year to date:
  • Site-wide: 25,755
• Since beginning of last month:
  • Site-wide: 7,991

metaCCA: Summary statistics-based multivariate meta-analysis of genome-wide association studies using canonical correlation analysis

• Downloaded 1,611 times
• Download rankings, all-time:
  • Site-wide: 12,241
  • In bioinformatics: 1,409
• Year to date:
  • Site-wide: 115,701
• Since beginning of last month:
  • Site-wide: None

Exome sequencing identifies high-impact trait-associated alleles enriched in Finns

• Downloaded 1,475 times
• Download rankings, all-time:
  • Site-wide: 13,905
  • In genomics: 1,418
• Year to date:
  • Site-wide: 82,846
• Since beginning of last month:
  • Site-wide: 62,689

FINEMAP: Efficient variable selection using summary data from genome-wide association studies

• Downloaded 1,271 times
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  • Site-wide: 17,457
  • In genetics: 812
• Year to date:
  • Site-wide: 138,746
• Since beginning of last month:
  • Site-wide: None

Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy

• Downloaded 1,238 times
• Download rankings, all-time:
  • Site-wide: 18,167
  • In genomics: 1,759
• Year to date:
  • Site-wide: 73,850
• Since beginning of last month:
  • Site-wide: 13,586

Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

• Downloaded 1,206 times
• Download rankings, all-time:
  • Site-wide: 18,871
  • In genetics: 865
• Year to date:
  • Site-wide: 85,404
• Since beginning of last month:
  • Site-wide: 62,827

Genomic prediction of coronary heart disease

• Downloaded 1,181 times
• Download rankings, all-time:
  • Site-wide: 19,467
  • In genomics: 1,886
• Year to date:
  • Site-wide: 138,066
• Since beginning of last month:
  • Site-wide: None

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

• Downloaded 1,164 times
• Download rankings, all-time:
  • Site-wide: 19,876
  • In genetics: 912
• Year to date:
  • Site-wide: 104,635
• Since beginning of last month:
  • Site-wide: 103,652

Haplotype sharing provides insights into fine-scale population history and disease in Finland

• Downloaded 1,152 times
• Download rankings, all-time:
  • Site-wide: 20,200
  • In genetics: 931
• Year to date:
  • Site-wide: 91,906
• Since beginning of last month:
  • Site-wide: 105,885

Sleep apnoea is a risk factor for severe COVID-19

• Downloaded 1,130 times
• Download rankings, all-time:
  • Site-wide: 20,775
  • In infectious diseases: 1,971
• Year to date:
  • Site-wide: 19,052
• Since beginning of last month:
  • Site-wide: 53,129

Geographic variation and bias in polygenic scores of complex diseases and traits in Finland

• Downloaded 1,051 times
• Download rankings, all-time:
  • Site-wide: 23,091
  • In genetics: 1,059
• Year to date:
  • Site-wide: 134,407
• Since beginning of last month:
  • Site-wide: 78,547

The rate of false polymorphisms introduced when imputing genotypes from global imputation panels

• Downloaded 988 times
• Download rankings, all-time:
  • Site-wide: 25,277
  • In genetics: 1,153
• Year to date:
  • Site-wide: 116,263
• Since beginning of last month:
  • Site-wide: 105,752

Multivariate genome-wide association analysis of a cytokine network reveals variants with widespread immune, haematological and cardiometabolic pleiotropy

• Downloaded 981 times
• Download rankings, all-time:
  • Site-wide: 25,536
  • In genomics: 2,360
• Year to date:
  • Site-wide: 116,029
• Since beginning of last month:
  • Site-wide: None

Polygenic risk, susceptibility genes, and breast cancer over the life course

• Downloaded 916 times
• Download rankings, all-time:
  • Site-wide: 28,188
  • In oncology: 36
• Year to date:
  • Site-wide: 48,681
• Since beginning of last month:
  • Site-wide: 70,176

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 862 times
• Download rankings, all-time:
  • Site-wide: 30,784
  • In genetics: 1,415
• Year to date:
  • Site-wide: 105,062
• Since beginning of last month:
  • Site-wide: None

Towards a molecular systems model of coronary artery disease

• Downloaded 841 times
• Download rankings, all-time:
  • Site-wide: 31,832
  • In systems biology: 652
• Year to date:
  • Site-wide: 142,190
• Since beginning of last month:
  • Site-wide: 114,311

An interaction map of circulating metabolites, immune gene networks and their genetic regulation

• Downloaded 799 times
• Download rankings, all-time:
  • Site-wide: 34,183
  • In genomics: 2,911
• Year to date:
  • Site-wide: 115,435
• Since beginning of last month:
  • Site-wide: 75,789

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

• Downloaded 796 times
• Download rankings, all-time:
  • Site-wide: 34,338
  • In genetics: 1,574
• Year to date:
  • Site-wide: 25,138
• Since beginning of last month:
  • Site-wide: 22,620

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

• Downloaded 776 times
• Download rankings, all-time:
  • Site-wide: 35,625
  • In genomics: 2,997
• Year to date:
  • Site-wide: 117,854
• Since beginning of last month:
  • Site-wide: 104,863

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

• Downloaded 745 times
• Download rankings, all-time:
  • Site-wide: 37,712
  • In genomics: 3,118
• Year to date:
  • Site-wide: 150,907
• Since beginning of last month:
  • Site-wide: None

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

• Downloaded 743 times
• Download rankings, all-time:
  • Site-wide: 37,821
  • In genetics: 1,709
• Year to date:
  • Site-wide: 31,821
• Since beginning of last month:
  • Site-wide: 99,611

Multiomics and digital monitoring during lifestyle changes reveal independent dimensions of human biology and health

• Downloaded 689 times
• Download rankings, all-time:
  • Site-wide: 41,833
  • In systems biology: 910
• Year to date:
  • Site-wide: 17,738
• Since beginning of last month:
  • Site-wide: 14,113

CCR5-del32 is not deleterious in the homozygous state in humans

• Downloaded 682 times
• Download rankings, all-time:
  • Site-wide: 42,426
  • In genetics: 1,906
• Year to date:
  • Site-wide: 121,549
• Since beginning of last month:
  • Site-wide: None

Polygenic risk score of alcohol consumption predicts alcohol-related morbidity and all-cause mortality

• Downloaded 666 times
• Download rankings, all-time:
  • Site-wide: 43,770
  • In genomics: 3,494
• Year to date:
  • Site-wide: 80,433
• Since beginning of last month:
  • Site-wide: 41,185

Advantages of genotype imputation with ethnically matched reference panel for rare variant association analyses

• Downloaded 652 times
• Download rankings, all-time:
  • Site-wide: 45,033
  • In genomics: 3,581
• Year to date:
  • Site-wide: 66,202
• Since beginning of last month:
  • Site-wide: 41,536

MetaPhat: Detecting and decomposing multivariate associations from univariate genome-wide association statistics

• Downloaded 609 times
• Download rankings, all-time:
  • Site-wide: 49,049
  • In bioinformatics: 5,041
• Year to date:
  • Site-wide: 140,761
• Since beginning of last month:
  • Site-wide: 114,380

Communicating polygenic and non-genetic risk for atherosclerotic cardiovascular disease - An observational follow-up study

• Downloaded 605 times
• Download rankings, all-time:
  • Site-wide: 49,533
  • In genetic and genomic medicine: 199
• Year to date:
  • Site-wide: 29,101
• Since beginning of last month:
  • Site-wide: 53,682

Genetic analyses on the health impacts of testosterone highlight effects on female-specific diseases and sex differences

• Downloaded 558 times
• Download rankings, all-time:
  • Site-wide: 54,795
  • In genetic and genomic medicine: 222
• Year to date:
  • Site-wide: 7,843
• Since beginning of last month:
  • Site-wide: 90,015

biMM: Efficient estimation of genetic variances and covariances for cohorts with high-dimensional phenotype measurements

• Downloaded 557 times
• Download rankings, all-time:
  • Site-wide: 54,914
  • In genetics: 2,421
• Year to date:
  • Site-wide: 140,824
• Since beginning of last month:
  • Site-wide: 62,958

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

• Downloaded 521 times
• Download rankings, all-time:
  • Site-wide: 59,522
  • In genetic and genomic medicine: 247
• Year to date:
  • Site-wide: 8,712
• Since beginning of last month:
  • Site-wide: 66,504

Whole genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

• Downloaded 500 times
• Download rankings, all-time:
  • Site-wide: 62,273
  • In genetics: 2,748
• Year to date:
  • Site-wide: 142,556
• Since beginning of last month:
  • Site-wide: 48,827

ANGPTL8 protein-truncating variant and the risk of coronary disease, type 2 diabetes and adverse effects

• Downloaded 392 times
• Download rankings, all-time:
  • Site-wide: 79,927
  • In genetic and genomic medicine: 345
• Year to date:
  • Site-wide: 69,738
• Since beginning of last month:
  • Site-wide: 30,773

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 368 times
• Download rankings, all-time:
  • Site-wide: 84,745
  • In genetics: 3,698
• Year to date:
  • Site-wide: 29,601
• Since beginning of last month:
  • Site-wide: 97,134

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

• Downloaded 358 times
• Download rankings, all-time:
  • Site-wide: 86,645
  • In genetics: 3,773
• Year to date:
  • Site-wide: 52,119
• Since beginning of last month:
  • Site-wide: 21,011

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

• Downloaded 350 times
• Download rankings, all-time:
  • Site-wide: 88,350
  • In genomics: 5,620
• Year to date:
  • Site-wide: 85,614
• Since beginning of last month:
  • Site-wide: 45,136

High-resolution population-specific recombination rates and their effect on phasing and genotype imputation

• Downloaded 340 times
• Download rankings, all-time:
  • Site-wide: 90,444
  • In genomics: 5,705
• Year to date:
  • Site-wide: 133,232
• Since beginning of last month:
  • Site-wide: 81,239

Polygenic score for physical activity provides odds for multiple common diseases

• Downloaded 322 times
• Download rankings, all-time:
  • Site-wide: 94,420
  • In sports medicine: 65
• Year to date:
  • Site-wide: 17,457
• Since beginning of last month:
  • Site-wide: 81,447

Coronary artery disease risk and lipidomic profiles are similar in familial and population-ascertained hyperlipidemias

• Downloaded 319 times
• Download rankings, all-time:
  • Site-wide: 95,188
  • In epidemiology: 4,017
• Year to date:
  • Site-wide: 103,497
• Since beginning of last month:
  • Site-wide: 23,007

Loss-of-function of MFGE8 and protection against coronary atherosclerosis

• Downloaded 272 times
• Download rankings, all-time:
  • Site-wide: 106,276
  • In cardiovascular medicine: 227
• Year to date:
  • Site-wide: 22,038
• Since beginning of last month:
  • Site-wide: 11,725

Clinical conditions and their impact on utility of genetic scores for prediction of acute coronary syndrome

• Downloaded 269 times
• Download rankings, all-time:
  • Site-wide: 106,954
  • In cardiovascular medicine: 230
• Year to date:
  • Site-wide: 69,085
• Since beginning of last month:
  • Site-wide: 66,844

Genetic associations and architecture of asthma-chronic obstructive pulmonary disease overlap

• Downloaded 261 times
• Download rankings, all-time:
  • Site-wide: 108,809
  • In genetic and genomic medicine: 539
• Year to date:
  • Site-wide: 44,174
• Since beginning of last month:
  • Site-wide: 38,419

Mitochondrial genome copy number in human blood-derived DNA is strongly associated with insulin levels and related metabolic traits and primarily reflects cell-type composition differences

• Downloaded 244 times
• Download rankings, all-time:
  • Site-wide: 112,935
  • In genetic and genomic medicine: 577
• Year to date:
  • Site-wide: 47,537
• Since beginning of last month:
  • Site-wide: 60,177

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

• Downloaded 224 times
• Download rankings, all-time:
  • Site-wide: 118,216
  • In genetic and genomic medicine: 625
• Year to date:
  • Site-wide: 56,369
• Since beginning of last month:
  • Site-wide: 41,975

Multiparametric profiling of cellular lipid metabolism in hypercholesterolemia

• Downloaded 168 times
• Download rankings, all-time:
  • Site-wide: 131,710
  • In cell biology: 6,053
• Year to date:
  • Site-wide: 40,299
• Since beginning of last month:
  • Site-wide: None