Author: Aarno Palotie

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Preprints

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

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  • Site-wide: 274
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  • Site-wide: 20,430
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  • Site-wide: 31,450

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

• Downloaded 9,959 times
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  • Site-wide: 703
  • In genetics: 22
• Year to date:
  • Site-wide: 3,976
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  • Site-wide: 3,329

Common risk variants identified in autism spectrum disorder

• Downloaded 7,467 times
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  • Site-wide: 1,025
  • In genetics: 35
• Year to date:
  • Site-wide: 1,834
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  • Site-wide: 2,761

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,562 times
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  • Site-wide: 1,971
  • In genetics: 80
• Year to date:
  • Site-wide: 88,396
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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: 2,950
  • In genetics: 125
• Year to date:
  • Site-wide: 34,742
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  • Site-wide: 39,848

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

• Downloaded 3,210 times
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  • Site-wide: 3,297
  • In genetics: 146
• Year to date:
  • Site-wide: 26,158
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  • Site-wide: 43,536

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

• Downloaded 2,686 times
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  • Site-wide: 4,221
  • In genomics: 502
• Year to date:
  • Site-wide: 17,605
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  • Site-wide: 15,250

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

• Downloaded 2,489 times
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  • Site-wide: 4,735
  • In genetics: 230
• Year to date:
  • Site-wide: 82,258
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  • Site-wide: 97,148

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

• Downloaded 2,476 times
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  • Site-wide: 4,779
  • In genetics: 233
• Year to date:
  • Site-wide: 12,455
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  • Site-wide: 15,672

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

• Downloaded 2,380 times
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  • Site-wide: 5,081
  • In genetic and genomic medicine: 12
• Year to date:
  • Site-wide: 1,097
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  • Site-wide: 1,395

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
• Year to date:
  • Site-wide: 8,122
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  • Site-wide: 14,231

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

• Downloaded 2,284 times
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  • Site-wide: 5,409
  • In genetics: 269
• Year to date:
  • Site-wide: 113,866
• Since beginning of last month:
  • Site-wide: 92,652

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

• Downloaded 1,979 times
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  • Site-wide: 6,629
  • In genetics: 334
• Year to date:
  • Site-wide: 23,590
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  • Site-wide: 37,223

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

• Downloaded 1,924 times
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  • Site-wide: 6,939
  • In genomics: 792
• Year to date:
  • Site-wide: 18,954
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  • Site-wide: 42,280

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 1,901 times
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  • Site-wide: 7,054
  • In genetics: 347
• Year to date:
  • Site-wide: 27,209
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  • Site-wide: 44,552

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

• Downloaded 1,856 times
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  • Site-wide: 7,298
  • In genetics: 362
• Year to date:
  • Site-wide: 40,909
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  • Site-wide: 56,202

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

• Downloaded 1,756 times
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  • Site-wide: 7,923
  • In genetics: 399
• Year to date:
  • Site-wide: 15,902
• Since beginning of last month:
  • Site-wide: 40,740

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

• Downloaded 1,660 times
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  • Site-wide: 8,671
  • In genomics: 1,005
• Year to date:
  • Site-wide: 51,609
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  • Site-wide: 42,481

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

• Downloaded 1,615 times
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  • Site-wide: 9,048
  • In genetics: 460
• Year to date:
  • Site-wide: 116,945
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  • Site-wide: 53,892

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

• Downloaded 1,522 times
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  • Site-wide: 9,881
  • In genetics: 499
• Year to date:
  • Site-wide: 73,140
• Since beginning of last month:
  • Site-wide: 86,821

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,431 times
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  • Site-wide: 10,808
  • In genomics: 1,227
• Year to date:
  • Site-wide: 71,088
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  • Site-wide: 103,093

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: 45,201
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  • Site-wide: 66,200

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

• Downloaded 1,260 times
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  • Site-wide: 13,103
  • In genetics: 680
• Year to date:
  • Site-wide: 36,143
• Since beginning of last month:
  • Site-wide: 28,535

Genomic prediction of coronary heart disease

• Downloaded 1,150 times
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  • Site-wide: 15,003
  • In genomics: 1,627
• Year to date:
  • Site-wide: 116,657
• Since beginning of last month:
  • Site-wide: 96,346

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,141 times
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  • Site-wide: 15,205
  • In genetics: 789
• Year to date:
  • Site-wide: 36,431
• Since beginning of last month:
  • Site-wide: 19,088

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

• Downloaded 1,112 times
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  • Site-wide: 15,797
  • In genetics: 818
• Year to date:
  • Site-wide: 61,161
• Since beginning of last month:
  • 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: 60,572
• Since beginning of last month:
  • Site-wide: 70,457

A global atlas of genetic associations of 220 deep phenotypes

• Downloaded 1,020 times
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  • Site-wide: 17,999
  • In genetic and genomic medicine: 48
• Year to date:
  • Site-wide: 7,644
• Since beginning of last month:
  • Site-wide: 7,212

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: 98,974
• Since beginning of last month:
  • Site-wide: 61,877

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

• Downloaded 1,003 times
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  • Site-wide: 18,484
  • In genomics: 1,931
• Year to date:
  • Site-wide: 78,970
• Since beginning of last month:
  • Site-wide: 92,064

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

• Downloaded 982 times
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  • Site-wide: 19,060
  • In genetics: 969
• Year to date:
  • Site-wide: 95,021
• Since beginning of last month:
  • Site-wide: 90,697

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

• Downloaded 943 times
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  • Site-wide: 20,164
  • In genetics: 1,013
• Year to date:
  • Site-wide: 97,433
• Since beginning of last month:
  • 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: 62,684
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  • Site-wide: 50,910

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

• Downloaded 898 times
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  • Site-wide: 21,649
  • In genetics: 1,087
• Year to date:
  • Site-wide: 74,871
• Since beginning of last month:
  • Site-wide: 62,539

Sleep apnoea is a risk factor for severe COVID-19

• Downloaded 869 times
• Download rankings, all-time:
  • Site-wide: 22,721
  • In infectious diseases: 1,591
• Year to date:
  • Site-wide: 5,394
• Since beginning of last month:
  • Site-wide: 2,877

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 816 times
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  • Site-wide: 24,847
  • In genetics: 1,254
• Year to date:
  • Site-wide: 31,414
• Since beginning of last month:
  • Site-wide: 43,021

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

• Downloaded 777 times
• Download rankings, all-time:
  • Site-wide: 26,624
  • In oncology: 25
• Year to date:
  • Site-wide: 95,865
• Since beginning of last month:
  • Site-wide: 17,256

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: 2,604
• Year to date:
  • Site-wide: 80,055
• 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: 40,793
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  • Site-wide: 110,739

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

• Downloaded 696 times
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  • Site-wide: 30,951
  • In genomics: 2,813
• Year to date:
  • Site-wide: 101,007
• Since beginning of last month:
  • Site-wide: 121,061

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

• Downloaded 675 times
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  • Site-wide: 32,308
  • In genetics: 1,621
• Year to date:
  • Site-wide: 9,738
• Since beginning of last month:
  • Site-wide: 9,982

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: 58,441
• Since beginning of last month:
  • Site-wide: 63,559

Identification of pathogenic variant enriched regions across genes and gene families

• Downloaded 598 times
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  • Site-wide: 37,758
  • In genetics: 1,871
• Year to date:
  • Site-wide: 121,742
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  • Site-wide: 72,282

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: 58,628
• Since beginning of last month:
  • Site-wide: 97,986

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

• Downloaded 560 times
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  • Site-wide: 41,025
  • In genetics: 2,005
• Year to date:
  • Site-wide: 36,354
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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: 81,459
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  • Site-wide: 75,227

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

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  • Site-wide: 41,929
  • In genetics: 2,050
• Year to date:
  • Site-wide: 26,805
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  • Site-wide: 36,562

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

• Downloaded 544 times
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  • Site-wide: 42,555
  • In genetics: 2,086
• Year to date:
  • Site-wide: 51,372
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  • Site-wide: 73,092

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

• Downloaded 485 times
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  • Site-wide: 48,756
  • In genomics: 3,881
• Year to date:
  • Site-wide: 51,637
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  • Site-wide: 63,624

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

• Downloaded 471 times
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  • Site-wide: 50,364
  • In genetics: 2,444
• Year to date:
  • Site-wide: 121,574
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  • Site-wide: 109,618

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

• Downloaded 393 times
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  • Site-wide: 60,892
  • In genetic and genomic medicine: 167
• Year to date:
  • Site-wide: 46,650
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  • Site-wide: 31,381

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

• Downloaded 331 times
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  • Site-wide: 70,961
  • In cardiovascular medicine: 102
• Year to date:
  • Site-wide: 62,257
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  • Site-wide: 35,911

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

• Downloaded 324 times
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  • Site-wide: 72,236
  • In genetics: 3,423
• Year to date:
  • Site-wide: 83,114
• Since beginning of last month:
  • Site-wide: 120,785

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

• Downloaded 306 times
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  • Site-wide: 75,556
  • In genomics: 5,082
• Year to date:
  • Site-wide: 102,823
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  • Site-wide: 38,987

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: 76,484
  • In genetic and genomic medicine: 215
• Year to date:
  • Site-wide: 48,279
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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: 5,316
• Year to date:
  • Site-wide: 112,852
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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: 87,111
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  • Site-wide: 103,185

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

• Downloaded 246 times
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  • Site-wide: 87,703
  • In genomics: 5,523
• Year to date:
  • Site-wide: 9,659
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  • Site-wide: 9,375

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 170 times
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  • Site-wide: 103,385
  • In genetics: 4,679
• Year to date:
  • Site-wide: 15,554
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  • Site-wide: 3,187

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

• Downloaded 108 times
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  • Site-wide: 114,851
  • In genetic and genomic medicine: 469
• Year to date:
  • Site-wide: 52,910
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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

• Downloaded 106 times
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  • Site-wide: 115,204
  • In genetic and genomic medicine: 470
• Year to date:
  • Site-wide: 48,406
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  • Site-wide: 26,235