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Author: Aarno Palotie

Rankings

  • All-time downloads: 127,517 (rank: 948 )
  • Categories:
    • cardiovascular medicine: 986 (rank: 580 )
    • epidemiology: 327 (rank: 25,017 (tie) )
    • genetic and genomic medicine: 13,718 (rank: 16 )
    • genetics: 69,074 (rank: 50 )
    • genomics: 40,906 (rank: 287 )
    • infectious diseases: 1,175 (rank: 25,809 (tie) )
    • neuroscience: 376 (rank: 62,645 (tie) )
    • oncology: 955 (rank: 857 (tie) )

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

genetic and genomic medicine more details view paper

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Genetic associations of protein-coding variants in human disease

genetic and genomic medicine more details view paper

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

genomics more details view paper
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    • Site-wide: 392
    • In genomics: 13
  • Year to date:
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    • Site-wide: 62,184

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

genetics more details view paper
  • Downloaded 10,511 times
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    • Site-wide: 993
    • In genetics: 23
  • Year to date:
    • Site-wide: 9,620
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    • Site-wide: 23,570

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 8,712 times
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    • Site-wide: 1,247
    • In genetics: 28
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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

genetic and genomic medicine more details view paper
  • Downloaded 5,400 times
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    • Site-wide: 2,317
    • In genetic and genomic medicine: 10
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    • Site-wide: 955
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A reference panel of 64,976 haplotypes for genotype imputation

genetics more details view paper
  • Downloaded 4,620 times
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    • Site-wide: 2,866
    • In genetics: 90
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    • Site-wide: 125,007
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    • Site-wide: 112,281

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

genetics more details view paper
  • Downloaded 3,632 times
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    • Site-wide: 4,015
    • In genetics: 136
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    • Site-wide: 48,607

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 3,357 times
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    • Site-wide: 4,482
    • In genetics: 161
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    • Site-wide: 57,773
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    • Site-wide: 70,053

A global atlas of genetic associations of 220 deep phenotypes

genetic and genomic medicine more details view paper
  • Downloaded 3,128 times
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    • Site-wide: 4,945
    • In genetic and genomic medicine: 21
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    • Site-wide: 1,575
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    • Site-wide: 1,318

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

genomics more details view paper
  • Downloaded 2,931 times
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    • Site-wide: 5,434
    • In genomics: 546
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    • Site-wide: 32,340
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    • Site-wide: 48,562

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

genetics more details view paper
  • Downloaded 2,732 times
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    • Site-wide: 6,024
    • In genetics: 248
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    • Site-wide: 29,672
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    • Site-wide: 38,155

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

genetics more details view paper
  • Downloaded 2,655 times
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    • Site-wide: 6,276
    • In genetics: 257
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

genetics more details view paper
  • Downloaded 2,539 times
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    • Site-wide: 6,711
    • In genetics: 279
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    • Site-wide: 132,819
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

genetics more details view paper
  • Downloaded 2,351 times
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    • Site-wide: 7,497
    • In genetics: 320
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    • Site-wide: 117,108
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    • Site-wide: 109,656

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

genetics more details view paper
  • Downloaded 2,098 times
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    • Site-wide: 8,855
    • In genetics: 373
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    • Site-wide: 69,735
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    • Site-wide: 95,753

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 2,059 times
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    • Site-wide: 9,094
    • In genomics: 913
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    • Site-wide: 61,323
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    • Site-wide: 62,192

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 2,045 times
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    • Site-wide: 9,181
    • In genetics: 381
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    • Site-wide: 59,015
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    • Site-wide: 109,349

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

genetics more details view paper
  • Downloaded 1,944 times
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    • Site-wide: 9,870
    • In genetics: 407
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    • Site-wide: 92,028
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    • Site-wide: 108,849

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

genetics more details view paper
  • Downloaded 1,855 times
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    • Site-wide: 10,622
    • In genetics: 459
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    • Site-wide: 77,816
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    • Site-wide: 101,977

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,745 times
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    • Site-wide: 11,628
    • In genomics: 1,167
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    • Site-wide: 95,441
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Gene family information facilitates variant interpretation and identification of disease-associated genes

genetics more details view paper
  • Downloaded 1,725 times
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    • Site-wide: 11,806
    • In genetics: 518
  • Year to date:
    • Site-wide: 81,825
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    • Site-wide: 43,438

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

genetics more details view paper
  • Downloaded 1,659 times
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    • Site-wide: 12,513
    • In genetics: 547
  • Year to date:
    • Site-wide: 4,401
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    • Site-wide: 3,439

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

genetics more details view paper
  • Downloaded 1,557 times
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    • Site-wide: 13,699
    • In genetics: 605
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    • Site-wide: 148,474
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    • Site-wide: 147,174

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

genomics more details view paper
  • Downloaded 1,498 times
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    • Site-wide: 14,588
    • In genomics: 1,444
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    • Site-wide: 87,475
  • Since beginning of last month:
    • Site-wide: 70,829

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,495 times
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    • 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

genetics more details view paper
  • Downloaded 1,443 times
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    • Site-wide: 15,481
    • In genetics: 691
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    • Site-wide: 46,971
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    • Site-wide: 69,768

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,361 times
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    • Site-wide: 16,884
    • In genetics: 756
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    • Site-wide: 38,070
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    • Site-wide: 46,503

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 1,197 times
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    • Site-wide: 20,413
    • In genetic and genomic medicine: 91
  • Year to date:
    • Site-wide: 3,449
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    • Site-wide: 3,349

Genomic prediction of coronary heart disease

genomics more details view paper
  • Downloaded 1,193 times
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    • Site-wide: 20,547
    • In genomics: 1,952
  • Year to date:
    • Site-wide: 143,495
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    • Site-wide: 127,596

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

genetics more details view paper
  • Downloaded 1,185 times
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    • Site-wide: 20,777
    • In genetics: 929
  • Year to date:
    • Site-wide: 107,080
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    • Site-wide: 123,020

Sleep apnoea is a risk factor for severe COVID-19

infectious diseases more details view paper
  • Downloaded 1,175 times
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    • Site-wide: 21,027
    • In infectious diseases: 2,058
  • Year to date:
    • Site-wide: 21,933
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    • Site-wide: 56,206

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

genetics more details view paper
  • Downloaded 1,167 times
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    • Site-wide: 21,224
    • In genetics: 945
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    • Site-wide: 101,904
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    • Site-wide: 146,731

Insights from complex trait fine-mapping across diverse populations

genetic and genomic medicine more details view paper
  • Downloaded 1,146 times
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    • Site-wide: 21,808
    • In genetic and genomic medicine: 98
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    • Site-wide: 3,677
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    • Site-wide: 332

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

genetics more details view paper
  • Downloaded 1,080 times
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    • Site-wide: 23,777
    • In genetics: 1,054
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    • Site-wide: 88,719
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    • Site-wide: 43,742

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

genomics more details view paper
  • Downloaded 1,077 times
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    • Site-wide: 23,903
    • In genomics: 2,221
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    • Site-wide: 107,772
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    • Site-wide: 117,551

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

genetics more details view paper
  • Downloaded 1,062 times
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    • Site-wide: 24,431
    • In genetics: 1,088
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    • Site-wide: 141,460
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    • Site-wide: 131,794

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

genetics more details view paper
  • Downloaded 1,005 times
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    • Site-wide: 26,496
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Multivariate genome-wide association analysis of a cytokine network reveals variants with widespread immune, haematological and cardiometabolic pleiotropy

genomics more details view paper
  • Downloaded 993 times
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    • Site-wide: 26,995
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    • Site-wide: 125,211
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Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

genetics more details view paper
  • Downloaded 980 times
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    • Site-wide: 27,554
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    • Site-wide: 100,450
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    • Site-wide: 124,798

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

oncology more details view paper
  • Downloaded 955 times
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    • Site-wide: 28,557
    • In oncology: 40
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Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

genetics more details view paper
  • Downloaded 883 times
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    • Site-wide: 31,975
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Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

genetics more details view paper
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    • Site-wide: 34,811
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An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

genetics more details view paper
  • Downloaded 804 times
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    • Site-wide: 36,518
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An interaction map of circulating metabolites, immune gene networks and their genetic regulation

genomics more details view paper
  • Downloaded 800 times
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Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

genomics more details view paper
  • Downloaded 788 times
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    • Site-wide: 37,531
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Large-Scale cognitive GWAS Meta-analysis Reveals Tissue-Specific Neural Expression and Potential Nootopic Drug Targets

genomics more details view paper
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    • Site-wide: 41,764
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    • Site-wide: 151,876
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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 724 times
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    • Site-wide: 42,211
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    • Site-wide: 7,320
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    • 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

genomics more details view paper
  • Downloaded 718 times
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    • Site-wide: 42,699
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    • Site-wide: 12,812
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    • Site-wide: 15,218

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

genetic and genomic medicine more details view paper
  • Downloaded 705 times
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    • Site-wide: 43,819
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    • Site-wide: 24,643
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    • Site-wide: 22,741

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

genetics more details view paper
  • Downloaded 704 times
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    • Site-wide: 43,862
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    • Site-wide: 119,958
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Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
  • Downloaded 690 times
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    • Site-wide: 45,097
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    • Site-wide: 95,531
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    • Site-wide: 132,428

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

genomics more details view paper
  • Downloaded 676 times
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    • Site-wide: 46,389
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    • Site-wide: 72,096
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    • Site-wide: 65,407

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

genomics more details view paper
  • Downloaded 673 times
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    • Site-wide: 46,642
    • In genomics: 3,643
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    • Site-wide: 97,123
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    • Site-wide: 107,355

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

genomics more details view paper
  • Downloaded 625 times
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    • Site-wide: 51,347
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    • Site-wide: 62,926
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Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

genetics more details view paper
  • Downloaded 617 times
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    • Site-wide: 52,249
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    • Site-wide: 105,806
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    • Site-wide: 111,042

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

cardiovascular medicine more details view paper
  • Downloaded 548 times
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    • Site-wide: 60,443
    • In cardiovascular medicine: 102
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    • Site-wide: 39,449
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    • Site-wide: 33,752

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 500 times
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    • Site-wide: 67,283
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    • Site-wide: 157,255
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    • Site-wide: 155,938

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

cardiovascular medicine more details view paper
  • Downloaded 438 times
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    • Site-wide: 77,570
    • In cardiovascular medicine: 146
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    • Site-wide: 15,577
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    • Site-wide: 9,229

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 411 times
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    • Site-wide: 82,787
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Association of Structural Variation with Cardiometabolic Traits in Finns

genetics more details view paper
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    • Site-wide: 33,118
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The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

neuroscience more details view paper
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    • Site-wide: 1,424

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

genetics more details view paper
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High-resolution population-specific recombination rates and their effect on phasing and genotype imputation

genomics more details view paper
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    • Site-wide: 93,433
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Polygenic Hyperlipidemias and Coronary Artery Disease Risk

genomics more details view paper
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    • Site-wide: 101,632
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Coronary artery disease risk and lipidomic profiles are similar in familial and population-ascertained hyperlipidemias

epidemiology more details view paper
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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 276 times
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    • Site-wide: 113,668
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    • Site-wide: 85,231

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 262 times
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    • Site-wide: 117,275
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Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

genetic and genomic medicine more details view paper
  • Downloaded 246 times
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Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

genetic and genomic medicine more details view paper
  • Downloaded 155 times
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Novel protein-altering variants associated with serum apolipoprotein and lipid levels

genetic and genomic medicine more details view paper
  • Downloaded 68 times
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