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Author: Aarno Palotie

Rankings

  • All-time downloads: 154,709 (rank: 992 )
  • Categories:
    • cardiovascular medicine: 1,857 (rank: 372 (tie) )
    • epidemiology: 387 (rank: 30,097 (tie) )
    • genetic and genomic medicine: 27,433 (rank: 5 )
    • genetics: 73,734 (rank: 48 )
    • genomics: 42,670 (rank: 306 )
    • infectious diseases: 1,306 (rank: 31,383 (tie) )
    • neuroscience: 793 (rank: 46,660 (tie) )
    • oncology: 1,027 (rank: 1,196 (tie) )
    • public and global health: 213 (rank: 17,082 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 22,457 times
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    • Site-wide: 495
    • In genomics: 16
  • Year to date:
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    • Site-wide: 43,970

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

genetics more details view paper
  • Downloaded 11,044 times
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    • Site-wide: 1,206
    • In genetics: 24
  • Year to date:
    • Site-wide: 13,699
  • Since beginning of last month:
    • Site-wide: 14,877

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 9,268 times
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    • Site-wide: 1,483
    • In genetics: 31
  • Year to date:
    • Site-wide: 28,115
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    • Site-wide: 19,666

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

genetic and genomic medicine more details view paper
  • Downloaded 8,928 times
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    • Site-wide: 1,555
    • In genetic and genomic medicine: 9
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    • Site-wide: 694
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    • Site-wide: 754

A reference panel of 64,976 haplotypes for genotype imputation

genetics more details view paper
  • Downloaded 4,722 times
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    • Site-wide: 3,683
    • In genetics: 100
  • Year to date:
    • Site-wide: 150,093
  • Since beginning of last month:
    • Site-wide: 125,836

A global atlas of genetic associations of 220 deep phenotypes

genetic and genomic medicine more details view paper
  • Downloaded 3,821 times
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    • Site-wide: 4,985
    • In genetic and genomic medicine: 23
  • Year to date:
    • Site-wide: 11,204
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    • Site-wide: 16,738

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

genetics more details view paper
  • Downloaded 3,744 times
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    • Site-wide: 5,144
    • In genetics: 160
  • Year to date:
    • Site-wide: 105,901
  • Since beginning of last month:
    • Site-wide: 91,115

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

genetics more details view paper
  • Downloaded 3,520 times
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    • Site-wide: 5,610
    • In genetics: 183
  • Year to date:
    • Site-wide: 71,747
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    • Site-wide: 29,688

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

genomics more details view paper
  • Downloaded 3,100 times
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    • Site-wide: 6,787
    • In genomics: 627
  • Year to date:
    • Site-wide: 81,476
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    • Site-wide: 21,788

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

genetics more details view paper
  • Downloaded 2,947 times
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    • Site-wide: 7,269
    • In genetics: 261
  • Year to date:
    • Site-wide: 62,229
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    • Site-wide: 75,252

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

genetics more details view paper
  • Downloaded 2,855 times
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    • Site-wide: 7,606
    • In genetics: 281
  • Year to date:
    • Site-wide: 4,266
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    • Site-wide: 20,231

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

genetics more details view paper
  • Downloaded 2,851 times
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    • Site-wide: 7,619
    • In genetics: 280
  • Year to date:
    • Site-wide: 95,775
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    • Site-wide: 31,913

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

genetics more details view paper
  • Downloaded 2,595 times
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    • Site-wide: 8,755
    • In genetics: 324
  • Year to date:
    • Site-wide: 176,235
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    • Site-wide: 198,892

Insights from complex trait fine-mapping across diverse populations

genetic and genomic medicine more details view paper
  • Downloaded 2,579 times
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    • Site-wide: 8,848
    • In genetic and genomic medicine: 56
  • Year to date:
    • Site-wide: 2,729
  • Since beginning of last month:
    • Site-wide: 4,616

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

genetics more details view paper
  • Downloaded 2,453 times
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    • Site-wide: 9,536
    • In genetics: 362
  • Year to date:
    • Site-wide: 131,569
  • Since beginning of last month:
    • Site-wide: 107,992

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

genetic and genomic medicine more details view paper
  • Downloaded 2,357 times
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    • Site-wide: 10,132
    • In genetic and genomic medicine: 62
  • Year to date:
    • Site-wide: 3,704
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    • Site-wide: 9,305

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 2,264 times
  • Download rankings, all-time:
    • Site-wide: 10,779
    • In genetics: 414
  • Year to date:
    • Site-wide: 53,188
  • Since beginning of last month:
    • Site-wide: 17,865

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

genetics more details view paper
  • Downloaded 2,261 times
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    • Site-wide: 10,801
    • In genetics: 402
  • Year to date:
    • Site-wide: 72,633
  • Since beginning of last month:
    • Site-wide: 48,620

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

genomics more details view paper
  • Downloaded 2,208 times
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    • Site-wide: 11,191
    • In genomics: 1,009
  • Year to date:
    • Site-wide: 87,517
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    • Site-wide: 66,670

FinnGen: Unique genetic insights from combining isolated population and national health register data

genetic and genomic medicine more details view paper
  • Downloaded 2,128 times
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    • Site-wide: 11,856
    • In genetic and genomic medicine: 106
  • Year to date:
    • Site-wide: 1,065
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    • Site-wide: 1,229

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

genetics more details view paper
  • Downloaded 2,065 times
  • Download rankings, all-time:
    • Site-wide: 12,384
    • In genetics: 457
  • Year to date:
    • Site-wide: 104,348
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    • Site-wide: 34,482

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

genetics more details view paper
  • Downloaded 1,956 times
  • Download rankings, all-time:
    • Site-wide: 13,448
    • In genetics: 504
  • Year to date:
    • Site-wide: 165,804
  • Since beginning of last month:
    • Site-wide: 203,720

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

genetics more details view paper
  • Downloaded 1,852 times
  • Download rankings, all-time:
    • Site-wide: 14,594
    • In genetics: 571
  • Year to date:
    • Site-wide: 110,817
  • Since beginning of last month:
    • Site-wide: 61,035

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,848 times
  • Download rankings, all-time:
    • Site-wide: 14,651
    • In genomics: 1,309
  • Year to date:
    • Site-wide: 112,573
  • Since beginning of last month:
    • Site-wide: 79,641

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

genetics more details view paper
  • Downloaded 1,623 times
  • Download rankings, all-time:
    • Site-wide: 17,912
    • In genetics: 713
  • Year to date:
    • Site-wide: 147,418
  • Since beginning of last month:
    • Site-wide: 54,421

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

genomics more details view paper
  • Downloaded 1,610 times
  • Download rankings, all-time:
    • Site-wide: 18,134
    • In genomics: 1,607
  • Year to date:
    • Site-wide: 120,524
  • Since beginning of last month:
    • Site-wide: 109,953

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,606 times
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    • Site-wide: 18,204
    • In genomics: 1,618
  • Year to date:
    • Site-wide: 109,279
  • Since beginning of last month:
    • Site-wide: 91,613

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

genetics more details view paper
  • Downloaded 1,603 times
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    • Site-wide: 18,251
    • In genetics: 725
  • Year to date:
    • Site-wide: 82,333
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    • Site-wide: 131,338

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,522 times
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    • Site-wide: 19,774
    • In genetics: 807
  • Year to date:
    • Site-wide: 72,782
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    • Site-wide: 38,557

Sleep apnoea is a risk factor for severe COVID-19

infectious diseases more details view paper
  • Downloaded 1,346 times
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    • Site-wide: 24,086
    • In infectious diseases: 2,508
  • Year to date:
    • Site-wide: 75,835
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    • Site-wide: 74,421

Genetic associations of protein-coding variants in human disease

genetic and genomic medicine more details view paper
  • Downloaded 1,337 times
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    • Site-wide: 24,357
    • In genetic and genomic medicine: 140
  • Year to date:
    • Site-wide: 42,856
  • Since beginning of last month:
    • Site-wide: 114,470

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

genomics more details view paper
  • Downloaded 1,297 times
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    • Site-wide: 25,575
    • In genomics: 2,349
  • Year to date:
    • Site-wide: 12,823
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    • Site-wide: 36,266

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

genetics more details view paper
  • Downloaded 1,267 times
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    • Site-wide: 26,581
    • In genetics: 1,045
  • Year to date:
    • Site-wide: 118,144
  • Since beginning of last month:
    • Site-wide: 60,822

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

genetics more details view paper
  • Downloaded 1,261 times
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    • Site-wide: 26,789
    • In genetics: 1,046
  • Year to date:
    • Site-wide: 162,930
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    • Site-wide: 125,366

Genomic prediction of coronary heart disease

genomics more details view paper
  • Downloaded 1,233 times
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    • Site-wide: 27,707
    • In genomics: 2,301
  • Year to date:
    • Site-wide: 193,966
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    • Site-wide: 124,115

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

genetics more details view paper
  • Downloaded 1,173 times
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    • Site-wide: 29,959
    • In genetics: 1,204
  • Year to date:
    • Site-wide: 135,938
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    • Site-wide: 53,599

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

genetic and genomic medicine more details view paper
  • Downloaded 1,150 times
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    • Site-wide: 30,915
    • In genetic and genomic medicine: 180
  • Year to date:
    • Site-wide: 30,030
  • Since beginning of last month:
    • Site-wide: 55,748

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

genomics more details view paper
  • Downloaded 1,146 times
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    • Site-wide: 31,089
    • In genomics: 2,528
  • Year to date:
    • Site-wide: 187,790
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    • Site-wide: 124,161

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

genetic and genomic medicine more details view paper
  • Downloaded 1,140 times
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    • Site-wide: 31,316
    • In genetic and genomic medicine: 185
  • Year to date:
    • Site-wide: 30,730
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    • Site-wide: 50,326

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

genetics more details view paper
  • Downloaded 1,127 times
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    • Site-wide: 31,914
    • In genetics: 1,253
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    • Site-wide: 175,845
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    • Site-wide: 148,142

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

genetics more details view paper
  • Downloaded 1,125 times
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    • Site-wide: 32,000
    • In genetics: 1,345
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    • Site-wide: 31,960
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    • Site-wide: 27,866

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

genetics more details view paper
  • Downloaded 1,103 times
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    • Site-wide: 32,972
    • In genetics: 1,302
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    • Site-wide: 124,653
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    • Site-wide: 78,654

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

genetic and genomic medicine more details view paper
  • Downloaded 1,098 times
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    • Site-wide: 33,227
    • In genetic and genomic medicine: 195
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    • Site-wide: 25,503
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    • Site-wide: 104,502

Mono- and bi-allelic effects of coding variants on disease in 176,899 Finns

genetic and genomic medicine more details view paper
  • Downloaded 1,080 times
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    • Site-wide: 34,035
    • In genetic and genomic medicine: 221
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    • Site-wide: 16,846
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    • Site-wide: 15,818

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

oncology more details view paper
  • Downloaded 1,055 times
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    • Site-wide: 35,300
    • In oncology: 57
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    • Site-wide: 140,055
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    • Site-wide: 144,437

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

genomics more details view paper
  • Downloaded 1,052 times
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    • Site-wide: 35,437
    • In genomics: 2,782
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    • Site-wide: 179,555
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    • Site-wide: 165,570

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

genetics more details view paper
  • Downloaded 1,046 times
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    • Site-wide: 35,787
    • In genetics: 1,400
  • Year to date:
    • Site-wide: 141,515
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    • Site-wide: 124,331

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

genetics more details view paper
  • Downloaded 1,005 times
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    • Site-wide: 37,965
    • In genetics: 1,489
  • Year to date:
    • Site-wide: 101,620
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    • Site-wide: 144,288

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

genetics more details view paper
  • Downloaded 988 times
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    • Site-wide: 39,007
    • In genetics: 1,547
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    • Site-wide: 126,673
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    • Site-wide: 66,692

Systematic comparison of family history and polygenic risk across 24 common diseases

genetic and genomic medicine more details view paper
  • Downloaded 977 times
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    • Site-wide: 39,661
    • In genetic and genomic medicine: 324
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    • Site-wide: 3,504
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    • Site-wide: 2,920

The impact of rare protein coding genetic variation on adult cognitive function

genetic and genomic medicine more details view paper
  • Downloaded 966 times
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    • Site-wide: 40,430
    • In genetic and genomic medicine: 296
  • Year to date:
    • Site-wide: 3,578
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    • Site-wide: 14,289

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

genomics more details view paper
  • Downloaded 871 times
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    • Site-wide: 47,320
    • In genomics: 3,491
  • Year to date:
    • Site-wide: 130,979
  • Since beginning of last month:
    • Site-wide: 91,636

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

neuroscience more details view paper
  • Downloaded 868 times
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    • Site-wide: 47,597
    • In neuroscience: 6,881
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    • Site-wide: 21,815
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    • Site-wide: 135,395

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

genomics more details view paper
  • Downloaded 865 times
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    • Site-wide: 47,838
    • In genomics: 3,472
  • Year to date:
    • Site-wide: 192,766
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    • Site-wide: 198,066

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

cardiovascular medicine more details view paper
  • Downloaded 822 times
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    • Site-wide: 51,676
    • In cardiovascular medicine: 98
  • Year to date:
    • Site-wide: 53,331
  • Since beginning of last month:
    • Site-wide: 75,177

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

genomics more details view paper
  • Downloaded 816 times
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    • Site-wide: 52,276
    • In genomics: 3,777
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    • Site-wide: 90,773
  • Since beginning of last month:
    • Site-wide: 94,089

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

genomics more details view paper
  • Downloaded 798 times
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    • Site-wide: 53,981
    • In genomics: 3,859
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    • Site-wide: 147,124
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    • Site-wide: 167,302

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

genetics more details view paper
  • Downloaded 793 times
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    • Site-wide: 54,472
    • In genetics: 2,124
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    • Site-wide: 145,786
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    • Site-wide: 76,178

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

genomics more details view paper
  • Downloaded 761 times
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    • Site-wide: 57,829
    • In genomics: 4,126
  • Year to date:
    • Site-wide: 94,737
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    • Site-wide: 140,510

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

cardiovascular medicine more details view paper
  • Downloaded 748 times
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    • Site-wide: 59,334
    • In cardiovascular medicine: 125
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    • Site-wide: 37,579
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    • Site-wide: 61,667

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

genomics more details view paper
  • Downloaded 747 times
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    • Site-wide: 59,435
    • In genomics: 4,088
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    • Site-wide: 169,805
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    • Site-wide: 106,548

Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
  • Downloaded 739 times
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    • Site-wide: 60,382
    • In genetics: 2,302
  • Year to date:
    • Site-wide: 195,603
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    • Site-wide: 168,265

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

genetics more details view paper
  • Downloaded 694 times
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    • Site-wide: 66,146
    • In genetics: 2,534
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    • Site-wide: 156,114
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    • Site-wide: 126,544

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

genetics more details view paper
  • Downloaded 534 times
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    • Site-wide: 92,611
    • In genetics: 3,461
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    • Site-wide: 206,364
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    • Site-wide: 170,308

Identification of 64 new risk loci for major depression, refinement of the genetic architecture and risk prediction of recurrence and comorbidities

genetic and genomic medicine more details view paper
  • Downloaded 520 times
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    • Site-wide: 95,395
    • In genetic and genomic medicine: None
  • Year to date:
    • Site-wide: 9,904
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    • Site-wide: 10,994

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

genetic and genomic medicine more details view paper
  • Downloaded 499 times
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    • Site-wide: 100,089
    • In genetic and genomic medicine: 602
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    • Site-wide: 157,348
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    • Site-wide: 181,818

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

genetic and genomic medicine more details view paper
  • Downloaded 493 times
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    • Site-wide: 101,609
    • In genetic and genomic medicine: 626
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    • Site-wide: 48,654
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    • Site-wide: 157,174

Association of Structural Variation with Cardiometabolic Traits in Finns

genetics more details view paper
  • Downloaded 491 times
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    • Site-wide: 102,042
    • In genetics: 3,799
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    • Site-wide: 175,347
  • Since beginning of last month:
    • Site-wide: 192,028

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

genetic and genomic medicine more details view paper
  • Downloaded 458 times
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    • Site-wide: 109,838
    • In genetic and genomic medicine: 730
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    • Site-wide: 65,763
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    • Site-wide: 30,132

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

genetic and genomic medicine more details view paper
  • Downloaded 457 times
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    • Site-wide: 110,088
    • In genetic and genomic medicine: 690
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    • Site-wide: 66,296
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    • Site-wide: 152,119

Integrated Analyses of Growth Differentiation Factor-15 Concentration and Cardiometabolic Diseases in Humans

cardiovascular medicine more details view paper
  • Downloaded 415 times
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    • Site-wide: 120,598
    • In cardiovascular medicine: 350
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    • Site-wide: 22,600
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    • Site-wide: 49,770

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

genomics more details view paper
  • Downloaded 414 times
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    • Site-wide: 120,889
    • In genomics: 6,738
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