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: 770
  • In genomics: 66
• Year to date:
  • Site-wide: 1,132
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  • Site-wide: 1,954

Genetics of 38 blood and urine biomarkers in the UK Biobank

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  • Site-wide: 1,247
  • In genetics: 48
• Year to date:
  • Site-wide: 2,420
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  • Site-wide: 2,489

A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 1,971
  • In genetics: 80
• Year to date:
  • Site-wide: 90,913
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  • Site-wide: 59,794

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

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  • Site-wide: 2,949
  • In genetics: 125
• Year to date:
  • Site-wide: 34,283
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  • Site-wide: 38,890

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

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  • Site-wide: 3,553
  • In genetics: 163
• Year to date:
  • Site-wide: 18,906
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  • Site-wide: 42,186

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

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  • Site-wide: 4,221
  • In genomics: 502
• Year to date:
  • Site-wide: 17,560
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  • Site-wide: 15,272

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

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  • Site-wide: 4,779
  • In genetics: 233
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  • Site-wide: 12,406
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  • Site-wide: 15,672

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

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  • Site-wide: 5,115
  • In genetics: 247
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  • Site-wide: 8,166
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  • Site-wide: 14,263

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

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  • Site-wide: 6,159
  • In genomics: 724
• Year to date:
  • Site-wide: 102,204
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  • Site-wide: 117,644

Cell specific eQTL analysis without sorting cells

• Downloaded 1,985 times
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  • Site-wide: 6,600
  • In genetics: 333
• Year to date:
  • Site-wide: 120,977
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  • Site-wide: 80,115

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

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  • Site-wide: 7,298
  • In genetics: 362
• Year to date:
  • Site-wide: 40,816
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  • Site-wide: 56,202

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

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  • Site-wide: 9,474
  • In bioinformatics: 1,193
• Year to date:
  • Site-wide: 83,095
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  • Site-wide: 116,028

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

• Downloaded 1,403 times
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  • Site-wide: 11,132
  • In genomics: 1,268
• Year to date:
  • Site-wide: 44,866
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  • Site-wide: 66,200

Refining fine-mapping: effect sizes and regional heritability

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  • Site-wide: 11,352
  • In genetics: 580
• Year to date:
  • Site-wide: 43,868
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  • Site-wide: 33,494

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

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  • Site-wide: 13,421
  • In genetics: 694
• Year to date:
  • Site-wide: 111,881
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  • Site-wide: 71,368

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

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  • Site-wide: 14,904
  • In genomics: 1,619
• Year to date:
  • Site-wide: 37,291
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  • Site-wide: 32,650

Genomic prediction of coronary heart disease

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  • Site-wide: 15,003
  • In genomics: 1,627
• Year to date:
  • Site-wide: 117,634
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  • Site-wide: 96,346

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

• Downloaded 1,138 times
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  • Site-wide: 15,245
  • In genetics: 792
• Year to date:
  • Site-wide: 37,975
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  • Site-wide: 59,583

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

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  • Site-wide: 15,796
  • In genetics: 818
• Year to date:
  • Site-wide: 59,599
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  • Site-wide: 69,991

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

• Downloaded 1,088 times
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  • Site-wide: 16,358
  • In genetics: 845
• Year to date:
  • Site-wide: 62,038
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  • Site-wide: 70,457

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

• Downloaded 1,018 times
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  • Site-wide: 18,066
  • In genetics: 923
• Year to date:
  • Site-wide: 98,802
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  • Site-wide: 61,877

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

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  • Site-wide: 20,164
  • In genetics: 1,013
• Year to date:
  • Site-wide: 93,716
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  • Site-wide: 79,175

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

• Downloaded 938 times
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  • Site-wide: 20,337
  • In genomics: 2,072
• Year to date:
  • Site-wide: 60,323
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  • Site-wide: 49,642

Sleep apnoea is a risk factor for severe COVID-19

• Downloaded 869 times
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  • Site-wide: 22,721
  • In infectious diseases: 1,591
• Year to date:
  • Site-wide: 5,397
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  • Site-wide: 2,884

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 816 times
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  • Site-wide: 24,846
  • In genetics: 1,254
• Year to date:
  • Site-wide: 32,470
• Since beginning of last month:
  • Site-wide: 43,021

Towards a molecular systems model of coronary artery disease

• Downloaded 813 times
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  • Site-wide: 25,006
  • In systems biology: 551
• Year to date:
  • Site-wide: 111,619
• Since beginning of last month:
  • Site-wide: 99,539

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

• Downloaded 777 times
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  • Site-wide: 26,619
  • In oncology: 25
• Year to date:
  • Site-wide: 92,672
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  • Site-wide: 17,134

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

• Downloaded 754 times
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  • Site-wide: 27,751
  • In genomics: 2,607
• Year to date:
  • Site-wide: 80,385
• Since beginning of last month:
  • Site-wide: 118,873

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

• Downloaded 738 times
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  • Site-wide: 28,596
  • In genomics: 2,655
• Year to date:
  • Site-wide: 41,231
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  • Site-wide: 110,739

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

• Downloaded 731 times
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  • Site-wide: 28,969
  • In genomics: 2,676
• Year to date:
  • Site-wide: 55,655
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  • Site-wide: 115,808

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

• Downloaded 644 times
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  • Site-wide: 34,393
  • In genetics: 1,719
• Year to date:
  • Site-wide: 55,255
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  • Site-wide: 63,559

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

• Downloaded 589 times
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  • Site-wide: 38,472
  • In genomics: 3,270
• Year to date:
  • Site-wide: 58,661
• Since beginning of last month:
  • Site-wide: 97,986

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

• Downloaded 582 times
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  • Site-wide: 39,077
  • In bioinformatics: 4,327
• Year to date:
  • Site-wide: 95,501
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  • Site-wide: 93,863

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

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  • Site-wide: 41,025
  • In genetics: 2,005
• Year to date:
  • Site-wide: 35,589
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  • Site-wide: 81,751

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

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  • Site-wide: 41,805
  • In genomics: 3,462
• Year to date:
  • Site-wide: 82,907
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  • Site-wide: 75,227

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

• Downloaded 551 times
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  • Site-wide: 41,931
  • In genetics: 2,050
• Year to date:
  • Site-wide: 26,679
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  • Site-wide: 36,562

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

• Downloaded 528 times
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  • Site-wide: 44,092
  • In genetics: 2,152
• Year to date:
  • Site-wide: 115,345
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  • Site-wide: 120,203

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

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  • Site-wide: 50,364
  • In genetics: 2,444
• Year to date:
  • Site-wide: 121,511
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  • Site-wide: 109,618

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

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  • Site-wide: 60,890
  • In genetic and genomic medicine: 167
• Year to date:
  • Site-wide: 45,920
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  • Site-wide: 31,402

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

• Downloaded 385 times
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  • Site-wide: 61,967
  • In systems biology: 1,542
• Year to date:
  • Site-wide: 20,715
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  • Site-wide: 3,529

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

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  • Site-wide: 75,620
  • In genomics: 5,082
• Year to date:
  • Site-wide: 100,832
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  • Site-wide: 39,673

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

• Downloaded 301 times
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  • Site-wide: 76,462
  • In genetic and genomic medicine: 215
• Year to date:
  • Site-wide: 48,602
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  • Site-wide: 27,354

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

• Downloaded 274 times
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  • Site-wide: 81,904
  • In genomics: 5,318
• Year to date:
  • Site-wide: 111,487
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  • Site-wide: 73,347

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

• Downloaded 263 times
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  • Site-wide: 84,107
  • In epidemiology: 3,394
• Year to date:
  • Site-wide: 87,240
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  • Site-wide: 103,185

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

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  • Site-wide: 91,852
  • In genetics: 4,255
• Year to date:
  • Site-wide: 114,390
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  • Site-wide: 24,454

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

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  • Site-wide: 102,775
  • In cardiovascular medicine: 200
• Year to date:
  • Site-wide: 76,278
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  • Site-wide: 69,028

Association of Structural Variation with Cardiometabolic Traits in Finns

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  • Site-wide: 103,371
  • In genetics: 4,679
• Year to date:
  • Site-wide: 15,396
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  • Site-wide: 3,193

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

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  • Site-wide: 114,041
  • In genetic and genomic medicine: 463
• Year to date:
  • Site-wide: 58,369
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  • Site-wide: 8,736

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

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  • Site-wide: 114,834
  • In genetic and genomic medicine: 469
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  • Site-wide: 53,898
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  • Site-wide: 36,447

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: 115,205
  • In genetic and genomic medicine: 470
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  • Site-wide: 26,236