Author: Aarno Palotie

Downloads per author, site-wide

Preprints

Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

No download data for this paper yet.

Genetic associations of protein-coding variants in human disease

No download data for this paper yet.

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

• Downloaded 22,187 times
• Download rankings, all-time:
  • Site-wide: 392
  • In genomics: 13
• Year to date:
  • Site-wide: 30,033
• Since beginning of last month:
  • Site-wide: 62,184

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

• Downloaded 10,511 times
• Download rankings, all-time:
  • Site-wide: 993
  • In genetics: 23
• Year to date:
  • Site-wide: 9,620
• Since beginning of last month:
  • Site-wide: 23,570

Common risk variants identified in autism spectrum disorder

• Downloaded 8,712 times
• Download rankings, all-time:
  • Site-wide: 1,247
  • In genetics: 28
• Year to date:
  • Site-wide: 2,971
• Since beginning of last month:
  • Site-wide: 7,472

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

• Downloaded 5,400 times
• Download rankings, all-time:
  • Site-wide: 2,317
  • In genetic and genomic medicine: 10
• Year to date:
  • Site-wide: 955
• Since beginning of last month:
  • Site-wide: 899

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,620 times
• Download rankings, all-time:
  • Site-wide: 2,866
  • In genetics: 90
• Year to date:
  • Site-wide: 125,007
• Since beginning of last month:
  • Site-wide: 112,281

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

• Downloaded 3,632 times
• Download rankings, all-time:
  • Site-wide: 4,015
  • In genetics: 136
• Year to date:
  • Site-wide: 49,250
• Since beginning of last month:
  • Site-wide: 48,607

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

• Downloaded 3,357 times
• Download rankings, all-time:
  • Site-wide: 4,482
  • In genetics: 161
• Year to date:
  • Site-wide: 57,773
• Since beginning of last month:
  • Site-wide: 70,053

A global atlas of genetic associations of 220 deep phenotypes

• Downloaded 3,128 times
• Download rankings, all-time:
  • Site-wide: 4,945
  • In genetic and genomic medicine: 21
• Year to date:
  • Site-wide: 1,575
• Since beginning of last month:
  • Site-wide: 1,318

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

• Downloaded 2,931 times
• Download rankings, all-time:
  • Site-wide: 5,434
  • In genomics: 546
• Year to date:
  • Site-wide: 32,340
• Since beginning of last month:
  • Site-wide: 48,562

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

• Downloaded 2,732 times
• Download rankings, all-time:
  • Site-wide: 6,024
  • In genetics: 248
• Year to date:
  • Site-wide: 29,672
• Since beginning of last month:
  • Site-wide: 38,155

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

• Downloaded 2,655 times
• Download rankings, all-time:
  • Site-wide: 6,276
  • In genetics: 257
• Year to date:
  • Site-wide: 24,976
• Since beginning of last month:
  • Site-wide: 36,084

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

• Downloaded 2,539 times
• Download rankings, all-time:
  • Site-wide: 6,711
  • In genetics: 279
• Year to date:
  • Site-wide: 132,819
• Since beginning of last month:
  • Site-wide: 151,211

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

• Downloaded 2,351 times
• Download rankings, all-time:
  • Site-wide: 7,497
  • In genetics: 320
• Year to date:
  • Site-wide: 117,108
• Since beginning of last month:
  • Site-wide: 109,656

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

• Downloaded 2,098 times
• Download rankings, all-time:
  • Site-wide: 8,855
  • In genetics: 373
• Year to date:
  • Site-wide: 69,735
• Since beginning of last month:
  • Site-wide: 95,753

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

• Downloaded 2,059 times
• Download rankings, all-time:
  • Site-wide: 9,094
  • In genomics: 913
• Year to date:
  • Site-wide: 61,323
• Since beginning of last month:
  • Site-wide: 62,192

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 2,045 times
• Download rankings, all-time:
  • Site-wide: 9,181
  • In genetics: 381
• Year to date:
  • Site-wide: 59,015
• Since beginning of last month:
  • Site-wide: 109,349

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

• Downloaded 1,944 times
• Download rankings, all-time:
  • Site-wide: 9,870
  • In genetics: 407
• Year to date:
  • Site-wide: 92,028
• Since beginning of last month:
  • Site-wide: 108,849

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

• Downloaded 1,855 times
• Download rankings, all-time:
  • Site-wide: 10,622
  • In genetics: 459
• Year to date:
  • Site-wide: 77,816
• Since beginning of last month:
  • Site-wide: 101,977

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

• Downloaded 1,745 times
• Download rankings, all-time:
  • Site-wide: 11,628
  • In genomics: 1,167
• Year to date:
  • Site-wide: 95,441
• Since beginning of last month:
  • Site-wide: 146,806

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

• Downloaded 1,725 times
• Download rankings, all-time:
  • Site-wide: 11,806
  • In genetics: 518
• Year to date:
  • Site-wide: 81,825
• Since beginning of last month:
  • Site-wide: 43,438

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

• Downloaded 1,659 times
• Download rankings, all-time:
  • Site-wide: 12,513
  • In genetics: 547
• Year to date:
  • Site-wide: 4,401
• Since beginning of last month:
  • Site-wide: 3,439

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

• Downloaded 1,557 times
• Download rankings, all-time:
  • Site-wide: 13,699
  • In genetics: 605
• Year to date:
  • Site-wide: 148,474
• Since beginning of last month:
  • Site-wide: 147,174

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

• Downloaded 1,498 times
• Download rankings, all-time:
  • Site-wide: 14,588
  • In genomics: 1,444
• Year to date:
  • Site-wide: 87,475
• Since beginning of last month:
  • Site-wide: 70,829

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,495 times
• Download rankings, all-time:
  • Site-wide: 14,637
  • In genomics: 1,451
• Year to date:
  • Site-wide: 116,220
• Since beginning of last month:
  • Site-wide: 108,665

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

• Downloaded 1,443 times
• Download rankings, all-time:
  • Site-wide: 15,481
  • In genetics: 691
• Year to date:
  • Site-wide: 46,971
• Since beginning of last month:
  • Site-wide: 69,768

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,361 times
• Download rankings, all-time:
  • Site-wide: 16,884
  • In genetics: 756
• Year to date:
  • Site-wide: 38,070
• Since beginning of last month:
  • Site-wide: 46,503

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

• Downloaded 1,197 times
• Download rankings, all-time:
  • Site-wide: 20,413
  • In genetic and genomic medicine: 91
• Year to date:
  • Site-wide: 3,449
• Since beginning of last month:
  • Site-wide: 3,349

Genomic prediction of coronary heart disease

• Downloaded 1,193 times
• Download rankings, all-time:
  • Site-wide: 20,547
  • In genomics: 1,952
• Year to date:
  • Site-wide: 143,495
• Since beginning of last month:
  • Site-wide: 127,596

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

• Downloaded 1,185 times
• Download rankings, all-time:
  • Site-wide: 20,777
  • In genetics: 929
• Year to date:
  • Site-wide: 107,080
• Since beginning of last month:
  • Site-wide: 123,020

Sleep apnoea is a risk factor for severe COVID-19

• Downloaded 1,175 times
• Download rankings, all-time:
  • Site-wide: 21,027
  • In infectious diseases: 2,058
• Year to date:
  • Site-wide: 21,933
• Since beginning of last month:
  • Site-wide: 56,206

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

• Downloaded 1,167 times
• Download rankings, all-time:
  • Site-wide: 21,224
  • In genetics: 945
• Year to date:
  • Site-wide: 101,904
• Since beginning of last month:
  • Site-wide: 146,731

Insights from complex trait fine-mapping across diverse populations

• Downloaded 1,146 times
• Download rankings, all-time:
  • Site-wide: 21,808
  • In genetic and genomic medicine: 98
• Year to date:
  • Site-wide: 3,677
• Since beginning of last month:
  • Site-wide: 332

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

• Downloaded 1,080 times
• Download rankings, all-time:
  • Site-wide: 23,777
  • In genetics: 1,054
• Year to date:
  • Site-wide: 88,719
• Since beginning of last month:
  • Site-wide: 43,742

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

• Downloaded 1,077 times
• Download rankings, all-time:
  • Site-wide: 23,903
  • In genomics: 2,221
• Year to date:
  • Site-wide: 107,772
• Since beginning of last month:
  • Site-wide: 117,551

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

• Downloaded 1,062 times
• Download rankings, all-time:
  • Site-wide: 24,431
  • In genetics: 1,088
• Year to date:
  • Site-wide: 141,460
• Since beginning of last month:
  • Site-wide: 131,794

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

• Downloaded 1,005 times
• Download rankings, all-time:
  • Site-wide: 26,496
  • In genetics: 1,176
• Year to date:
  • Site-wide: 120,584
• Since beginning of last month:
  • Site-wide: 139,648

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

• Downloaded 993 times
• Download rankings, all-time:
  • Site-wide: 26,995
  • In genomics: 2,442
• Year to date:
  • Site-wide: 125,211
• Since beginning of last month:
  • Site-wide: 133,637

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

• Downloaded 980 times
• Download rankings, all-time:
  • Site-wide: 27,554
  • In genetics: 1,233
• Year to date:
  • Site-wide: 100,450
• Since beginning of last month:
  • Site-wide: 124,798

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

• Downloaded 955 times
• Download rankings, all-time:
  • Site-wide: 28,557
  • In oncology: 40
• Year to date:
  • Site-wide: 50,384
• Since beginning of last month:
  • Site-wide: 66,860

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 883 times
• Download rankings, all-time:
  • Site-wide: 31,975
  • In genetics: 1,434
• Year to date:
  • Site-wide: 107,671
• Since beginning of last month:
  • Site-wide: 92,780

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

• Downloaded 830 times
• Download rankings, all-time:
  • Site-wide: 34,811
  • In genetics: 1,554
• Year to date:
  • Site-wide: 29,600
• Since beginning of last month:
  • Site-wide: 33,308

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

• Downloaded 804 times
• Download rankings, all-time:
  • Site-wide: 36,518
  • In genetics: 1,610
• Year to date:
  • Site-wide: 31,708
• Since beginning of last month:
  • Site-wide: 30,216

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

• Downloaded 800 times
• Download rankings, all-time:
  • Site-wide: 36,742
  • In genomics: 3,047
• Year to date:
  • Site-wide: 136,942
• Since beginning of last month:
  • Site-wide: 156,597

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

• Downloaded 788 times
• Download rankings, all-time:
  • Site-wide: 37,531
  • In genomics: 3,093
• Year to date:
  • Site-wide: 127,168
• Since beginning of last month:
  • Site-wide: 144,343

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

• Downloaded 730 times
• Download rankings, all-time:
  • Site-wide: 41,764
  • In genomics: 3,350
• Year to date:
  • Site-wide: 151,876
• Since beginning of last month:
  • Site-wide: 140,080

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

• Downloaded 724 times
• Download rankings, all-time:
  • Site-wide: 42,211
  • In genetic and genomic medicine: 181
• Year to date:
  • Site-wide: 7,320
• Since beginning of last month:
  • Site-wide: 8,049

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

• Downloaded 718 times
• Download rankings, all-time:
  • Site-wide: 42,699
  • In genomics: 3,419
• Year to date:
  • Site-wide: 12,812
• Since beginning of last month:
  • Site-wide: 15,218

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

• Downloaded 705 times
• Download rankings, all-time:
  • Site-wide: 43,819
  • In genetic and genomic medicine: 192
• Year to date:
  • Site-wide: 24,643
• Since beginning of last month:
  • Site-wide: 22,741

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

• Downloaded 704 times
• Download rankings, all-time:
  • Site-wide: 43,862
  • In genetics: 1,931
• Year to date:
  • Site-wide: 119,958
• Since beginning of last month:
  • Site-wide: 119,858

Identification of pathogenic variant enriched regions across genes and gene families

• Downloaded 690 times
• Download rankings, all-time:
  • Site-wide: 45,097
  • In genetics: 1,987
• Year to date:
  • Site-wide: 95,531
• Since beginning of last month:
  • Site-wide: 132,428

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

• Downloaded 676 times
• Download rankings, all-time:
  • Site-wide: 46,389
  • In genomics: 3,627
• Year to date:
  • Site-wide: 72,096
• Since beginning of last month:
  • Site-wide: 65,407

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

• Downloaded 673 times
• Download rankings, all-time:
  • Site-wide: 46,642
  • In genomics: 3,643
• Year to date:
  • Site-wide: 97,123
• Since beginning of last month:
  • Site-wide: 107,355

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

• Downloaded 625 times
• Download rankings, all-time:
  • Site-wide: 51,347
  • In genomics: 3,895
• Year to date:
  • Site-wide: 62,926
• Since beginning of last month:
  • Site-wide: 67,737

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

• Downloaded 617 times
• Download rankings, all-time:
  • Site-wide: 52,249
  • In genetics: 2,255
• Year to date:
  • Site-wide: 105,806
• Since beginning of last month:
  • Site-wide: 111,042

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

• Downloaded 548 times
• Download rankings, all-time:
  • Site-wide: 60,443
  • In cardiovascular medicine: 102
• Year to date:
  • Site-wide: 39,449
• Since beginning of last month:
  • Site-wide: 33,752

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

• Downloaded 500 times
• Download rankings, all-time:
  • Site-wide: 67,283
  • In genetics: 2,892
• Year to date:
  • Site-wide: 157,255
• Since beginning of last month:
  • Site-wide: 155,938

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

• Downloaded 438 times
• Download rankings, all-time:
  • Site-wide: 77,570
  • In cardiovascular medicine: 146
• Year to date:
  • Site-wide: 15,577
• Since beginning of last month:
  • Site-wide: 9,229

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

• Downloaded 411 times
• Download rankings, all-time:
  • Site-wide: 82,787
  • In genetic and genomic medicine: 375
• Year to date:
  • Site-wide: 78,144
• Since beginning of last month:
  • Site-wide: 67,130

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 408 times
• Download rankings, all-time:
  • Site-wide: 83,303
  • In genetics: 3,553
• Year to date:
  • Site-wide: 33,118
• Since beginning of last month:
  • Site-wide: 68,798

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

• Downloaded 376 times
• Download rankings, all-time:
  • Site-wide: 89,697
  • In neuroscience: 13,352
• Year to date:
  • Site-wide: 19,559
• Since beginning of last month:
  • Site-wide: 1,424

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

• Downloaded 363 times
• Download rankings, all-time:
  • Site-wide: 92,610
  • In genetics: 3,925
• Year to date:
  • Site-wide: 145,217
• Since beginning of last month:
  • Site-wide: 156,764

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

• Downloaded 360 times
• Download rankings, all-time:
  • Site-wide: 93,433
  • In genomics: 5,827
• Year to date:
  • Site-wide: 130,941
• Since beginning of last month:
  • Site-wide: 104,465

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

• Downloaded 358 times
• Download rankings, all-time:
  • Site-wide: 93,910
  • In genomics: 5,845
• Year to date:
  • Site-wide: 101,632
• Since beginning of last month:
  • Site-wide: 149,056

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

• Downloaded 327 times
• Download rankings, all-time:
  • Site-wide: 100,984
  • In epidemiology: 4,287
• Year to date:
  • Site-wide: 119,014
• Since beginning of last month:
  • Site-wide: 116,966

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 276 times
• Download rankings, all-time:
  • Site-wide: 113,668
  • In genetic and genomic medicine: 601
• Year to date:
  • Site-wide: 51,864
• Since beginning of last month:
  • Site-wide: 85,231

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

• Downloaded 262 times
• Download rankings, all-time:
  • Site-wide: 117,275
  • In genetic and genomic medicine: 644
• Year to date:
  • Site-wide: 57,089
• Since beginning of last month:
  • Site-wide: 43,244

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

• Downloaded 246 times
• Download rankings, all-time:
  • Site-wide: 121,446
  • In genetic and genomic medicine: 675
• Year to date:
  • Site-wide: 35,003
• Since beginning of last month:
  • Site-wide: 37,049

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

• Downloaded 155 times
• Download rankings, all-time:
  • Site-wide: 144,028
  • In genetic and genomic medicine: 841
• Year to date:
  • Site-wide: 59,492
• Since beginning of last month:
  • Site-wide: 100,033

Novel protein-altering variants associated with serum apolipoprotein and lipid levels

• Downloaded 68 times
• Download rankings, all-time:
  • Site-wide: 158,144
  • In genetic and genomic medicine: 990
• Year to date:
  • Site-wide: 117,055
• Since beginning of last month:
  • Site-wide: 20,236