Author: Aarno Palotie

Downloads per author, site-wide

Preprints

Analysis of protein-coding genetic variation in 60,706 humans

• Downloaded 22,088 times
• Download rankings, all-time:
  • Site-wide: 341
  • In genomics: 13
• Year to date:
  • Site-wide: 30,789
• Since beginning of last month:
  • Site-wide: 44,851

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

• Downloaded 10,395 times
• Download rankings, all-time:
  • Site-wide: 881
  • In genetics: 23
• Year to date:
  • Site-wide: 7,811
• Since beginning of last month:
  • Site-wide: 8,793

Common risk variants identified in autism spectrum disorder

• Downloaded 8,452 times
• Download rankings, all-time:
  • Site-wide: 1,139
  • In genetics: 29
• Year to date:
  • Site-wide: 2,477
• Since beginning of last month:
  • Site-wide: 2,338

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,601 times
• Download rankings, all-time:
  • Site-wide: 2,565
  • In genetics: 86
• Year to date:
  • Site-wide: 107,894
• Since beginning of last month:
  • Site-wide: 114,986

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

• Downloaded 4,512 times
• Download rankings, all-time:
  • Site-wide: 2,641
  • In genetic and genomic medicine: 11
• Year to date:
  • Site-wide: 938
• Since beginning of last month:
  • Site-wide: 1,037

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

• Downloaded 3,569 times
• Download rankings, all-time:
  • Site-wide: 3,695
  • In genetics: 132
• Year to date:
  • Site-wide: 46,549
• Since beginning of last month:
  • Site-wide: 62,448

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

• Downloaded 3,321 times
• Download rankings, all-time:
  • Site-wide: 4,083
  • In genetics: 155
• Year to date:
  • Site-wide: 45,878
• Since beginning of last month:
  • Site-wide: 50,903

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

• Downloaded 2,874 times
• Download rankings, all-time:
  • Site-wide: 5,011
  • In genomics: 516
• Year to date:
  • Site-wide: 25,998
• Since beginning of last month:
  • Site-wide: 23,034

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

• Downloaded 2,660 times
• Download rankings, all-time:
  • Site-wide: 5,598
  • In genetics: 241
• Year to date:
  • Site-wide: 25,658
• Since beginning of last month:
  • Site-wide: 28,062

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

• Downloaded 2,570 times
• Download rankings, all-time:
  • Site-wide: 5,891
  • In genetics: 254
• Year to date:
  • Site-wide: 22,126
• Since beginning of last month:
  • Site-wide: 36,465

A global atlas of genetic associations of 220 deep phenotypes

• Downloaded 2,529 times
• Download rankings, all-time:
  • Site-wide: 6,045
  • In genetic and genomic medicine: 24
• Year to date:
  • Site-wide: 1,526
• Since beginning of last month:
  • Site-wide: 3,477

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

• Downloaded 2,527 times
• Download rankings, all-time:
  • Site-wide: 6,056
  • In genetics: 262
• Year to date:
  • Site-wide: 107,946
• Since beginning of last month:
  • Site-wide: 119,153

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

• Downloaded 2,328 times
• Download rankings, all-time:
  • Site-wide: 6,834
  • In genetics: 306
• Year to date:
  • Site-wide: 103,386
• Since beginning of last month:
  • Site-wide: 74,095

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

• Downloaded 2,068 times
• Download rankings, all-time:
  • Site-wide: 8,094
  • In genetics: 357
• Year to date:
  • Site-wide: 54,990
• Since beginning of last month:
  • Site-wide: 58,540

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 2,009 times
• Download rankings, all-time:
  • Site-wide: 8,453
  • In genetics: 371
• Year to date:
  • Site-wide: 47,655
• Since beginning of last month:
  • Site-wide: 63,123

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

• Downloaded 2,004 times
• Download rankings, all-time:
  • Site-wide: 8,485
  • In genomics: 886
• Year to date:
  • Site-wide: 58,859
• Since beginning of last month:
  • Site-wide: 58,203

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

• Downloaded 1,905 times
• Download rankings, all-time:
  • Site-wide: 9,171
  • In genetics: 405
• Year to date:
  • Site-wide: 87,601
• Since beginning of last month:
  • Site-wide: 115,363

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

• Downloaded 1,823 times
• Download rankings, all-time:
  • Site-wide: 9,781
  • In genetics: 441
• Year to date:
  • Site-wide: 64,228
• Since beginning of last month:
  • Site-wide: 105,036

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

• Downloaded 1,721 times
• Download rankings, all-time:
  • Site-wide: 10,637
  • In genomics: 1,107
• Year to date:
  • Site-wide: 77,666
• Since beginning of last month:
  • Site-wide: 115,454

Gene family information facilitates variant interpretation and identification of disease-associated genes

• Downloaded 1,661 times
• Download rankings, all-time:
  • Site-wide: 11,222
  • In genetics: 509
• Year to date:
  • Site-wide: 100,128
• Since beginning of last month:
  • Site-wide: 114,058

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

• Downloaded 1,544 times
• Download rankings, all-time:
  • Site-wide: 12,438
  • In genetics: 575
• Year to date:
  • Site-wide: 130,725
• Since beginning of last month:
  • Site-wide: 117,698

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,476 times
• Download rankings, all-time:
  • Site-wide: 13,318
  • In genomics: 1,379
• Year to date:
  • Site-wide: 96,509
• Since beginning of last month:
  • Site-wide: 106,026

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

• Downloaded 1,462 times
• Download rankings, all-time:
  • Site-wide: 13,510
  • In genomics: 1,393
• Year to date:
  • Site-wide: 78,716
• Since beginning of last month:
  • Site-wide: 73,441

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effects

• Downloaded 1,390 times
• Download rankings, all-time:
  • Site-wide: 14,600
  • In genetics: 682
• Year to date:
  • Site-wide: 40,349
• Since beginning of last month:
  • Site-wide: 23,812

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,299 times
• Download rankings, all-time:
  • Site-wide: 16,204
  • In genetics: 761
• Year to date:
  • Site-wide: 32,925
• Since beginning of last month:
  • Site-wide: 34,925

Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

• Downloaded 1,274 times
• Download rankings, all-time:
  • Site-wide: 16,672
  • In genetics: 787
• Year to date:
  • Site-wide: 5,430
• Since beginning of last month:
  • Site-wide: 9,215

Genomic prediction of coronary heart disease

• Downloaded 1,181 times
• Download rankings, all-time:
  • Site-wide: 18,647
  • In genomics: 1,832
• Year to date:
  • Site-wide: 121,679
• Since beginning of last month:
  • Site-wide: 97,677

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

• Downloaded 1,160 times
• Download rankings, all-time:
  • Site-wide: 19,147
  • In genetics: 899
• Year to date:
  • Site-wide: 92,251
• Since beginning of last month:
  • Site-wide: 81,983

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

• Downloaded 1,148 times
• Download rankings, all-time:
  • Site-wide: 19,466
  • In genetics: 914
• Year to date:
  • Site-wide: 80,230
• Since beginning of last month:
  • Site-wide: 106,178

Sleep apnoea is a risk factor for severe COVID-19

• Downloaded 1,095 times
• Download rankings, all-time:
  • Site-wide: 20,850
  • In infectious diseases: 1,901
• Year to date:
  • Site-wide: 18,201
• Since beginning of last month:
  • Site-wide: 44,586

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

• Downloaded 1,044 times
• Download rankings, all-time:
  • Site-wide: 22,381
  • In genetics: 1,036
• Year to date:
  • Site-wide: 128,607
• Since beginning of last month:
  • Site-wide: 139,885

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

• Downloaded 1,043 times
• Download rankings, all-time:
  • Site-wide: 22,406
  • In genomics: 2,147
• Year to date:
  • Site-wide: 104,157
• Since beginning of last month:
  • Site-wide: 112,503

Rare schizophrenia risk variants are enriched in genes shared with neurodevelopmental disorders

• Downloaded 1,028 times
• Download rankings, all-time:
  • Site-wide: 22,901
  • In genetics: 1,057
• Year to date:
  • Site-wide: 97,955
• Since beginning of last month:
  • Site-wide: 50,603

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

• Downloaded 983 times
• Download rankings, all-time:
  • Site-wide: 24,415
  • In genetics: 1,132
• Year to date:
  • Site-wide: 105,459
• Since beginning of last month:
  • Site-wide: 104,530

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

• Downloaded 979 times
• Download rankings, all-time:
  • Site-wide: 24,564
  • In genomics: 2,299
• Year to date:
  • Site-wide: 100,510
• Since beginning of last month:
  • Site-wide: 80,834

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

• Downloaded 959 times
• Download rankings, all-time:
  • Site-wide: 25,324
  • In genetics: 1,180
• Year to date:
  • Site-wide: 80,403
• Since beginning of last month:
  • Site-wide: 62,767

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

• Downloaded 901 times
• Download rankings, all-time:
  • Site-wide: 27,648
  • In oncology: 36
• Year to date:
  • Site-wide: 44,926
• Since beginning of last month:
  • Site-wide: 49,315

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 858 times
• Download rankings, all-time:
  • Site-wide: 29,633
  • In genetics: 1,378
• Year to date:
  • Site-wide: 92,680
• Since beginning of last month:
  • Site-wide: 97,438

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

• Downloaded 795 times
• Download rankings, all-time:
  • Site-wide: 32,919
  • In genetic and genomic medicine: 125
• Year to date:
  • Site-wide: 3,819
• Since beginning of last month:
  • Site-wide: 486

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

• Downloaded 792 times
• Download rankings, all-time:
  • Site-wide: 33,129
  • In genomics: 2,864
• Year to date:
  • Site-wide: 107,913
• Since beginning of last month:
  • Site-wide: 94,164

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

• Downloaded 771 times
• Download rankings, all-time:
  • Site-wide: 34,361
  • In genetics: 1,584
• Year to date:
  • Site-wide: 23,517
• Since beginning of last month:
  • Site-wide: 74,236

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

• Downloaded 769 times
• Download rankings, all-time:
  • Site-wide: 34,472
  • In genomics: 2,943
• Year to date:
  • Site-wide: 109,682
• Since beginning of last month:
  • Site-wide: 80,620

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

• Downloaded 739 times
• Download rankings, all-time:
  • Site-wide: 36,473
  • In genetics: 1,681
• Year to date:
  • Site-wide: 26,543
• Since beginning of last month:
  • Site-wide: 38,310

Large-Scale cognitive GWAS Meta-analysis Reveals Tissue-Specific Neural Expression and Potential Nootopic Drug Targets

• Downloaded 714 times
• Download rankings, all-time:
  • Site-wide: 38,251
  • In genomics: 3,180
• Year to date:
  • Site-wide: 140,743
• Since beginning of last month:
  • Site-wide: 136,136

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

• Downloaded 677 times
• Download rankings, all-time:
  • Site-wide: 41,048
  • In genetics: 1,868
• Year to date:
  • Site-wide: 111,294
• Since beginning of last month:
  • Site-wide: 129,022

Identification of pathogenic variant enriched regions across genes and gene families

• Downloaded 662 times
• Download rankings, all-time:
  • Site-wide: 42,213
  • In genetics: 1,918
• Year to date:
  • Site-wide: 81,381
• Since beginning of last month:
  • Site-wide: 39,888

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

• Downloaded 641 times
• Download rankings, all-time:
  • Site-wide: 43,961
  • In genomics: 3,534
• Year to date:
  • Site-wide: 87,602
• Since beginning of last month:
  • Site-wide: 124,330

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

• Downloaded 634 times
• Download rankings, all-time:
  • Site-wide: 44,599
  • In genomics: 3,572
• Year to date:
  • Site-wide: 64,369
• Since beginning of last month:
  • Site-wide: 69,136

An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks

• Downloaded 594 times
• Download rankings, all-time:
  • Site-wide: 48,335
  • In genomics: 3,768
• Year to date:
  • Site-wide: 11,382
• Since beginning of last month:
  • Site-wide: 10,962

Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

• Downloaded 590 times
• Download rankings, all-time:
  • Site-wide: 48,732
  • In genetics: 2,194
• Year to date:
  • Site-wide: 92,724
• Since beginning of last month:
  • Site-wide: 126,170

Identifying Nootropic Drug Targets via Large-Scale Cognitive GWAS and Transcriptomics

• Downloaded 589 times
• Download rankings, all-time:
  • Site-wide: 48,892
  • In genomics: 3,797
• Year to date:
  • Site-wide: 51,117
• Since beginning of last month:
  • Site-wide: 63,828

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

• Downloaded 577 times
• Download rankings, all-time:
  • Site-wide: 50,125
  • In genetic and genomic medicine: 194
• Year to date:
  • Site-wide: 28,135
• Since beginning of last month:
  • Site-wide: 46,918

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

• Downloaded 488 times
• Download rankings, all-time:
  • Site-wide: 61,223
  • In genetic and genomic medicine: 242
• Year to date:
  • Site-wide: 7,833
• Since beginning of last month:
  • Site-wide: 11,869

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

• Downloaded 486 times
• Download rankings, all-time:
  • Site-wide: 61,449
  • In genetics: 2,752
• Year to date:
  • Site-wide: 146,027
• Since beginning of last month:
  • Site-wide: 131,405

High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease.

• Downloaded 481 times
• Download rankings, all-time:
  • Site-wide: 62,126
  • In cardiovascular medicine: 97
• Year to date:
  • Site-wide: 35,839
• Since beginning of last month:
  • Site-wide: 36,860

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 364 times
• Download rankings, all-time:
  • Site-wide: 81,622
  • In genetics: 3,615
• Year to date:
  • Site-wide: 24,794
• Since beginning of last month:
  • Site-wide: 62,216

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

• Downloaded 364 times
• Download rankings, all-time:
  • Site-wide: 81,723
  • In genetic and genomic medicine: 341
• Year to date:
  • Site-wide: 76,652
• Since beginning of last month:
  • Site-wide: 83,407

Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

• Downloaded 353 times
• Download rankings, all-time:
  • Site-wide: 83,863
  • In genetics: 3,705
• Year to date:
  • Site-wide: 121,113
• Since beginning of last month:
  • Site-wide: 136,440

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

• Downloaded 334 times
• Download rankings, all-time:
  • Site-wide: 87,837
  • In genomics: 5,589
• Year to date:
  • Site-wide: 124,978
• Since beginning of last month:
  • Site-wide: 107,686

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

• Downloaded 331 times
• Download rankings, all-time:
  • Site-wide: 88,399
  • In genomics: 5,606
• Year to date:
  • Site-wide: 87,313
• Since beginning of last month:
  • Site-wide: 99,310

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

• Downloaded 295 times
• Download rankings, all-time:
  • Site-wide: 96,411
  • In epidemiology: 4,031
• Year to date:
  • Site-wide: 117,623
• Since beginning of last month:
  • Site-wide: 123,377

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 227 times
• Download rankings, all-time:
  • Site-wide: 112,627
  • In genetic and genomic medicine: 560
• Year to date:
  • Site-wide: 44,573
• Since beginning of last month:
  • Site-wide: 53,006

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

• Downloaded 208 times
• Download rankings, all-time:
  • Site-wide: 117,139
  • In genetic and genomic medicine: 603
• Year to date:
  • Site-wide: 53,281
• Since beginning of last month:
  • Site-wide: 72,916

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

• Downloaded 183 times
• Download rankings, all-time:
  • Site-wide: 123,277
  • In genetic and genomic medicine: 641
• Year to date:
  • Site-wide: 29,843
• Since beginning of last month:
  • Site-wide: 21,163

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

• Downloaded 182 times
• Download rankings, all-time:
  • Site-wide: 123,598
  • In cardiovascular medicine: 305
• Year to date:
  • Site-wide: 30,078
• Since beginning of last month:
  • Site-wide: 3,710

Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

• Downloaded 120 times
• Download rankings, all-time:
  • Site-wide: 137,230
  • In genetic and genomic medicine: 749
• Year to date:
  • Site-wide: 47,492
• Since beginning of last month:
  • Site-wide: 33,798