Author: Aarno Palotie

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Preprints

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

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  • Site-wide: 296
  • In genomics: 11
• Year to date:
  • Site-wide: 51,933
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  • Site-wide: None

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

• Downloaded 10,138 times
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  • Site-wide: 746
  • In genetics: 22
• Year to date:
  • Site-wide: 3,917
• Since beginning of last month:
  • Site-wide: 3,771

Common risk variants identified in autism spectrum disorder

• Downloaded 7,739 times
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  • Site-wide: 1,053
  • In genetics: 34
• Year to date:
  • Site-wide: 2,057
• Since beginning of last month:
  • Site-wide: 2,085

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,582 times
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  • Site-wide: 2,114
  • In genetics: 80
• Year to date:
  • Site-wide: 57,920
• Since beginning of last month:
  • Site-wide: 53,970

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

• Downloaded 3,481 times
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  • Site-wide: 3,143
  • In genetics: 126
• Year to date:
  • Site-wide: 39,061
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  • Site-wide: 37,555

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

• Downloaded 3,247 times
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  • Site-wide: 3,480
  • In genetics: 149
• Year to date:
  • Site-wide: 27,161
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  • Site-wide: 29,755

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

• Downloaded 2,861 times
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  • Site-wide: 4,121
  • In genetic and genomic medicine: 11
• Year to date:
  • Site-wide: 993
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  • Site-wide: 1,101

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

• Downloaded 2,731 times
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  • Site-wide: 4,412
  • In genomics: 509
• Year to date:
  • Site-wide: 21,673
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  • Site-wide: 16,238

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

• Downloaded 2,526 times
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  • Site-wide: 4,960
  • In genetics: 229
• Year to date:
  • Site-wide: 18,021
• Since beginning of last month:
  • Site-wide: 18,917

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

• Downloaded 2,502 times
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  • Site-wide: 5,044
  • In genetics: 232
• Year to date:
  • Site-wide: 73,829
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  • Site-wide: 74,463

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

• Downloaded 2,436 times
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  • Site-wide: 5,252
  • In genetics: 247
• Year to date:
  • Site-wide: 12,597
• Since beginning of last month:
  • Site-wide: 16,263

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

• Downloaded 2,294 times
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  • Site-wide: 5,733
  • In genetics: 274
• Year to date:
  • Site-wide: 98,187
• Since beginning of last month:
  • Site-wide: 64,309

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

• Downloaded 2,009 times
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  • Site-wide: 6,912
  • In genetics: 338
• Year to date:
  • Site-wide: 30,926
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  • Site-wide: 18,771

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

• Downloaded 1,955 times
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  • Site-wide: 7,220
  • In genomics: 809
• Year to date:
  • Site-wide: 28,855
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  • Site-wide: 24,229

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 1,943 times
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  • Site-wide: 7,289
  • In genetics: 351
• Year to date:
  • Site-wide: 24,944
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  • Site-wide: 14,219

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

• Downloaded 1,867 times
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  • Site-wide: 7,731
  • In genetics: 370
• Year to date:
  • Site-wide: 64,619
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  • Site-wide: 68,402

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

• Downloaded 1,779 times
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  • Site-wide: 8,333
  • In genetics: 405
• Year to date:
  • Site-wide: 32,216
• Since beginning of last month:
  • Site-wide: 27,433

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

• Downloaded 1,684 times
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  • Site-wide: 9,096
  • In genomics: 1,021
• Year to date:
  • Site-wide: 43,034
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  • Site-wide: 30,217

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

• Downloaded 1,638 times
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  • Site-wide: 9,463
  • In genetics: 464
• Year to date:
  • Site-wide: 54,925
• Since beginning of last month:
  • Site-wide: 43,351

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

• Downloaded 1,529 times
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  • Site-wide: 10,457
  • In genetics: 517
• Year to date:
  • Site-wide: 93,983
• Since beginning of last month:
  • Site-wide: 76,196

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,447 times
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  • Site-wide: 11,333
  • In genomics: 1,260
• Year to date:
  • Site-wide: 61,962
• Since beginning of last month:
  • Site-wide: 63,520

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

• Downloaded 1,431 times
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  • Site-wide: 11,520
  • In genomics: 1,283
• Year to date:
  • Site-wide: 37,688
• Since beginning of last month:
  • Site-wide: 26,906

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

• Downloaded 1,287 times
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  • Site-wide: 13,522
  • In genetics: 681
• Year to date:
  • Site-wide: 35,953
• Since beginning of last month:
  • Site-wide: 53,323

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,193 times
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  • Site-wide: 15,174
  • In genetics: 776
• Year to date:
  • Site-wide: 21,580
• Since beginning of last month:
  • Site-wide: 16,409

Genomic prediction of coronary heart disease

• Downloaded 1,160 times
• Download rankings, all-time:
  • Site-wide: 15,816
  • In genomics: 1,673
• Year to date:
  • Site-wide: 98,471
• Since beginning of last month:
  • Site-wide: 68,039

A global atlas of genetic associations of 220 deep phenotypes

• Downloaded 1,139 times
• Download rankings, all-time:
  • Site-wide: 16,270
  • In genetic and genomic medicine: 50
• Year to date:
  • Site-wide: 7,196
• Since beginning of last month:
  • Site-wide: 12,979

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

• Downloaded 1,126 times
• Download rankings, all-time:
  • Site-wide: 16,552
  • In genetics: 835
• Year to date:
  • Site-wide: 65,461
• Since beginning of last month:
  • Site-wide: 55,811

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

• Downloaded 1,102 times
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  • Site-wide: 17,105
  • In genetics: 869
• Year to date:
  • Site-wide: 65,868
• Since beginning of last month:
  • Site-wide: 63,666

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

• Downloaded 1,020 times
• Download rankings, all-time:
  • Site-wide: 19,189
  • In genetics: 955
• Year to date:
  • Site-wide: 121,013
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 1,015 times
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  • Site-wide: 19,343
  • In genomics: 1,982
• Year to date:
  • Site-wide: 76,518
• Since beginning of last month:
  • Site-wide: 76,382

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

• Downloaded 989 times
• Download rankings, all-time:
  • Site-wide: 20,046
  • In genetics: 994
• Year to date:
  • Site-wide: 101,026
• Since beginning of last month:
  • Site-wide: 93,213

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

• Downloaded 962 times
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  • Site-wide: 20,863
  • In genetics: 1,025
• Year to date:
  • Site-wide: 59,062
• Since beginning of last month:
  • Site-wide: 34,476

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

• Downloaded 949 times
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  • Site-wide: 21,269
  • In genomics: 2,128
• Year to date:
  • Site-wide: 73,999
• Since beginning of last month:
  • Site-wide: 54,084

Sleep apnoea is a risk factor for severe COVID-19

• Downloaded 938 times
• Download rankings, all-time:
  • Site-wide: 21,605
  • In infectious diseases: 1,651
• Year to date:
  • Site-wide: 10,760
• Since beginning of last month:
  • Site-wide: 31,037

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

• Downloaded 919 times
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  • Site-wide: 22,285
  • In genetics: 1,097
• Year to date:
  • Site-wide: 52,694
• Since beginning of last month:
  • Site-wide: 54,163

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

• Downloaded 893 times
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  • Site-wide: 23,228
  • In genetics: 1,151
• Year to date:
  • Site-wide: 3,622
• Since beginning of last month:
  • Site-wide: 2,877

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 825 times
• Download rankings, all-time:
  • Site-wide: 25,984
  • In genetics: 1,289
• Year to date:
  • Site-wide: 64,597
• Since beginning of last month:
  • Site-wide: 68,458

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

• Downloaded 816 times
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  • Site-wide: 26,382
  • In oncology: 26
• Year to date:
  • Site-wide: 32,094
• Since beginning of last month:
  • Site-wide: 35,546

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

• Downloaded 760 times
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  • Site-wide: 29,090
  • In genomics: 2,677
• Year to date:
  • Site-wide: 100,888
• Since beginning of last month:
  • Site-wide: 75,744

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

• Downloaded 747 times
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  • Site-wide: 29,857
  • In genomics: 2,733
• Year to date:
  • Site-wide: 71,399
• Since beginning of last month:
  • Site-wide: 67,805

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

• Downloaded 701 times
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  • Site-wide: 32,583
  • In genomics: 2,909
• Year to date:
  • Site-wide: 112,577
• Since beginning of last month:
  • Site-wide: 96,375

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

• Downloaded 660 times
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  • Site-wide: 35,378
  • In genetics: 1,730
• Year to date:
  • Site-wide: 59,830
• Since beginning of last month:
  • Site-wide: 33,207

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

• Downloaded 633 times
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  • Site-wide: 37,304
  • In genetics: 1,816
• Year to date:
  • Site-wide: 15,442
• Since beginning of last month:
  • Site-wide: 6,776

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

• Downloaded 625 times
• Download rankings, all-time:
  • Site-wide: 37,937
  • In genetics: 1,848
• Year to date:
  • Site-wide: 14,433
• Since beginning of last month:
  • Site-wide: 9,171

Identification of pathogenic variant enriched regions across genes and gene families

• Downloaded 616 times
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  • Site-wide: 38,630
  • In genetics: 1,884
• Year to date:
  • Site-wide: 71,237
• Since beginning of last month:
  • Site-wide: 52,155

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

• Downloaded 608 times
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  • Site-wide: 39,218
  • In genomics: 3,317
• Year to date:
  • Site-wide: 52,271
• Since beginning of last month:
  • Site-wide: 44,005

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

• Downloaded 576 times
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  • Site-wide: 41,984
  • In genomics: 3,466
• Year to date:
  • Site-wide: 47,558
• Since beginning of last month:
  • Site-wide: 37,656

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

• Downloaded 557 times
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  • Site-wide: 43,801
  • In genetics: 2,107
• Year to date:
  • Site-wide: 65,203
• Since beginning of last month:
  • Site-wide: 76,497

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

• Downloaded 490 times
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  • Site-wide: 50,994
  • In genomics: 4,009
• Year to date:
  • Site-wide: 92,075
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 477 times
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  • Site-wide: 52,595
  • In genetics: 2,492
• Year to date:
  • Site-wide: 118,658
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  • Site-wide: 99,672

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

• Downloaded 418 times
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  • Site-wide: 60,561
  • In genetic and genomic medicine: 181
• Year to date:
  • Site-wide: 40,169
• Since beginning of last month:
  • Site-wide: 47,456

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

• Downloaded 374 times
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  • Site-wide: 67,413
  • In cardiovascular medicine: 98
• Year to date:
  • Site-wide: 27,471
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  • Site-wide: 20,865

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

• Downloaded 352 times
• Download rankings, all-time:
  • Site-wide: 70,992
  • In genomics: 4,930
• Year to date:
  • Site-wide: 8,509
• Since beginning of last month:
  • Site-wide: 9,279

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

• Downloaded 339 times
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  • Site-wide: 73,344
  • In genetics: 3,413
• Year to date:
  • Site-wide: 67,222
• Since beginning of last month:
  • Site-wide: 92,083

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

• Downloaded 317 times
• Download rankings, all-time:
  • Site-wide: 77,470
  • In genetic and genomic medicine: 241
• Year to date:
  • Site-wide: 56,404
• Since beginning of last month:
  • Site-wide: 58,963

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

• Downloaded 316 times
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  • Site-wide: 77,572
  • In genomics: 5,185
• Year to date:
  • Site-wide: 91,340
• Since beginning of last month:
  • Site-wide: 72,124

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

• Downloaded 291 times
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  • Site-wide: 82,633
  • In genomics: 5,358
• Year to date:
  • Site-wide: 70,577
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  • Site-wide: 82,797

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

• Downloaded 275 times
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  • Site-wide: 85,797
  • In epidemiology: 3,512
• Year to date:
  • Site-wide: 81,209
• Since beginning of last month:
  • Site-wide: 77,045

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

• Downloaded 272 times
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  • Site-wide: 86,489
  • In genetic and genomic medicine: 285
• Year to date:
  • Site-wide: 3,106
• Since beginning of last month:
  • Site-wide: 4,626

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 240 times
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  • Site-wide: 93,293
  • In genetics: 4,259
• Year to date:
  • Site-wide: 14,072
• Since beginning of last month:
  • Site-wide: 11,185

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 135 times
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  • Site-wide: 115,049
  • In genetic and genomic medicine: 505
• Year to date:
  • Site-wide: 36,882
• Since beginning of last month:
  • Site-wide: 23,136

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

• Downloaded 123 times
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  • Site-wide: 117,333
  • In genetic and genomic medicine: 523
• Year to date:
  • Site-wide: 60,257
• Since beginning of last month:
  • Site-wide: 72,714