Author: Samuli Ripatti

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Preprints

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

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  • Site-wide: 812
  • In genomics: 64
• Year to date:
  • Site-wide: 1,444
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  • Site-wide: 1,553

Genetics of 38 blood and urine biomarkers in the UK Biobank

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  • Site-wide: 1,263
  • In genetics: 43
• Year to date:
  • Site-wide: 1,823
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  • Site-wide: 3,265

A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 2,260
  • In genetics: 82
• Year to date:
  • Site-wide: 81,660
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  • Site-wide: 104,328

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

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  • Site-wide: 3,341
  • In genetics: 129
• Year to date:
  • Site-wide: 46,938
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  • Site-wide: 43,162

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

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  • Site-wide: 4,004
  • In genetics: 168
• Year to date:
  • Site-wide: 56,093
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  • Site-wide: 74,235

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

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  • Site-wide: 4,601
  • In genomics: 511
• Year to date:
  • Site-wide: 22,043
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  • Site-wide: 17,784

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

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  • Site-wide: 5,192
  • In genetics: 237
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  • Site-wide: 23,578
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  • Site-wide: 29,457

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

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  • Site-wide: 5,456
  • In genetics: 250
• Year to date:
  • Site-wide: 16,730
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  • Site-wide: 19,994

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

• Downloaded 2,092 times
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  • Site-wide: 7,022
  • In genomics: 774
• Year to date:
  • Site-wide: 127,581
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  • Site-wide: 114,842

Cell specific eQTL analysis without sorting cells

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  • Site-wide: 7,482
  • In genetics: 350
• Year to date:
  • Site-wide: 106,034
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  • Site-wide: 86,633

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

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  • Site-wide: 8,221
  • In genetics: 379
• Year to date:
  • Site-wide: 68,088
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  • Site-wide: 63,189

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

• Downloaded 1,591 times
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  • Site-wide: 10,560
  • In bioinformatics: 1,287
• Year to date:
  • Site-wide: 81,477
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  • Site-wide: 61,672

Refining fine-mapping: effect sizes and regional heritability

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  • Site-wide: 11,975
  • In genetics: 581
• Year to date:
  • Site-wide: 34,467
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  • Site-wide: 26,754

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

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  • Site-wide: 12,227
  • In genomics: 1,319
• Year to date:
  • Site-wide: 59,265
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  • Site-wide: 89,307

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

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  • Site-wide: 15,000
  • In genetics: 742
• Year to date:
  • Site-wide: 99,325
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  • Site-wide: 84,303

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

• Downloaded 1,182 times
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  • Site-wide: 16,498
  • In genomics: 1,703
• Year to date:
  • Site-wide: 69,040
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  • Site-wide: 68,336

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

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  • Site-wide: 16,743
  • In genetics: 814
• Year to date:
  • Site-wide: 60,646
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  • Site-wide: 89,248

Genomic prediction of coronary heart disease

• Downloaded 1,164 times
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  • Site-wide: 16,880
  • In genomics: 1,745
• Year to date:
  • Site-wide: 116,995
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  • Site-wide: 114,151

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

• Downloaded 1,138 times
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  • Site-wide: 17,420
  • In genetics: 849
• Year to date:
  • Site-wide: 76,167
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  • Site-wide: 71,182

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

• Downloaded 1,119 times
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  • Site-wide: 17,883
  • In genetics: 873
• Year to date:
  • Site-wide: 68,164
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  • Site-wide: 54,568

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

• Downloaded 1,030 times
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  • Site-wide: 20,190
  • In genetics: 969
• Year to date:
  • Site-wide: 120,408
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  • Site-wide: 106,836

Sleep apnoea is a risk factor for severe COVID-19

• Downloaded 1,012 times
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  • Site-wide: 20,715
  • In infectious diseases: 1,724
• Year to date:
  • Site-wide: 12,848
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  • Site-wide: 15,157

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

• Downloaded 968 times
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  • Site-wide: 22,052
  • In genetics: 1,058
• Year to date:
  • Site-wide: 83,926
• Since beginning of last month:
  • Site-wide: 103,400

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

• Downloaded 956 times
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  • Site-wide: 22,456
  • In genomics: 2,196
• Year to date:
  • Site-wide: 91,159
• Since beginning of last month:
  • Site-wide: 104,503

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

• Downloaded 842 times
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  • Site-wide: 26,933
  • In oncology: 31
• Year to date:
  • Site-wide: 40,031
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  • Site-wide: 42,214

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 838 times
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  • Site-wide: 27,123
  • In genetics: 1,310
• Year to date:
  • Site-wide: 73,494
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  • Site-wide: 68,479

Towards a molecular systems model of coronary artery disease

• Downloaded 826 times
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  • Site-wide: 27,660
  • In systems biology: 592
• Year to date:
  • Site-wide: 120,429
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  • Site-wide: 115,865

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

• Downloaded 767 times
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  • Site-wide: 30,738
  • In genomics: 2,760
• Year to date:
  • Site-wide: 111,677
• Since beginning of last month:
  • Site-wide: 96,852

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

• Downloaded 752 times
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  • Site-wide: 31,575
  • In genomics: 2,815
• Year to date:
  • Site-wide: 94,841
• Since beginning of last month:
  • Site-wide: 107,645

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

• Downloaded 740 times
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  • Site-wide: 32,321
  • In genomics: 2,859
• Year to date:
  • Site-wide: 116,782
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  • Site-wide: 133,371

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

• Downloaded 733 times
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  • Site-wide: 32,776
  • In genetics: 1,584
• Year to date:
  • Site-wide: 12,993
• Since beginning of last month:
  • Site-wide: 9,701

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

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  • Site-wide: 36,819
  • In genetics: 1,756
• Year to date:
  • Site-wide: 19,609
• Since beginning of last month:
  • Site-wide: 22,838

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

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  • Site-wide: 37,053
  • In genetics: 1,770
• Year to date:
  • Site-wide: 80,138
• Since beginning of last month:
  • Site-wide: 91,443

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

• Downloaded 618 times
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  • Site-wide: 40,989
  • In genomics: 3,392
• Year to date:
  • Site-wide: 70,713
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  • Site-wide: 79,314

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

• Downloaded 598 times
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  • Site-wide: 42,788
  • In genomics: 3,488
• Year to date:
  • Site-wide: 53,144
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  • Site-wide: 45,530

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

• Downloaded 595 times
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  • Site-wide: 43,009
  • In bioinformatics: 4,609
• Year to date:
  • Site-wide: 113,935
• Since beginning of last month:
  • Site-wide: 122,791

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

• Downloaded 539 times
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  • Site-wide: 48,561
  • In genetics: 2,277
• Year to date:
  • Site-wide: 125,469
• Since beginning of last month:
  • Site-wide: 118,236

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

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  • Site-wide: 50,013
  • In systems biology: 1,155
• Year to date:
  • Site-wide: 16,067
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  • Site-wide: 13,782

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

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  • Site-wide: 52,286
  • In genetic and genomic medicine: 170
• Year to date:
  • Site-wide: 21,851
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  • Site-wide: 12,863

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

• Downloaded 482 times
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  • Site-wide: 55,334
  • In genetics: 2,557
• Year to date:
  • Site-wide: 127,021
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  • Site-wide: 107,101

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

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  • Site-wide: 79,065
  • In genetic and genomic medicine: 281
• Year to date:
  • Site-wide: 5,697
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  • Site-wide: 15,244

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

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  • Site-wide: 79,672
  • In genetic and genomic medicine: 287
• Year to date:
  • Site-wide: 70,049
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  • Site-wide: 78,579

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

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  • Site-wide: 81,759
  • In genomics: 5,324
• Year to date:
  • Site-wide: 118,014
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  • Site-wide: 131,908

Association of Structural Variation with Cardiometabolic Traits in Finns

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  • Site-wide: 83,800
  • In genetics: 3,786
• Year to date:
  • Site-wide: 15,686
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  • Site-wide: 14,761

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

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  • Site-wide: 86,627
  • In genomics: 5,512
• Year to date:
  • Site-wide: 98,106
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  • Site-wide: 116,893

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

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  • Site-wide: 89,517
  • In epidemiology: 3,679
• Year to date:
  • Site-wide: 97,103
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  • Site-wide: 96,442

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

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  • Site-wide: 91,217
  • In genetics: 4,106
• Year to date:
  • Site-wide: 53,706
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  • Site-wide: 52,686

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

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  • Site-wide: 104,178
  • In cardiovascular medicine: 212
• Year to date:
  • Site-wide: 57,799
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  • Site-wide: 37,212

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

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  • Site-wide: 111,052
  • In genetic and genomic medicine: 490
• Year to date:
  • Site-wide: 32,148
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  • Site-wide: 26,982

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

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  • Site-wide: 111,504
  • In genetic and genomic medicine: 496
• Year to date:
  • Site-wide: 35,947
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  • Site-wide: 26,841

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

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  • Site-wide: 115,349
  • In genetic and genomic medicine: 533
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  • Site-wide: 43,035
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  • Site-wide: 27,956

Polygenic score for physical activity provides odds for multiple common diseases

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  • Site-wide: 122,155
  • In sports medicine: 64
• Year to date:
  • Site-wide: 19,998
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  • Site-wide: 9,548