Author: Aarno Palotie

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Preprints

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

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  • Site-wide: 495
  • In genomics: 16
• Year to date:
  • Site-wide: 38,807
• Since beginning of last month:
  • Site-wide: 43,970

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

• 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

• Downloaded 9,268 times
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  • Site-wide: 1,483
  • In genetics: 31
• Year to date:
  • Site-wide: 28,115
• Since beginning of last month:
  • Site-wide: 19,666

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

• Downloaded 8,928 times
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  • Site-wide: 1,555
  • In genetic and genomic medicine: 9
• Year to date:
  • Site-wide: 694
• Since beginning of last month:
  • Site-wide: 754

A reference panel of 64,976 haplotypes for genotype imputation

• 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

• 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

• 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)

• 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

• 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

• 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

• Downloaded 2,855 times
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  • Site-wide: 7,606
  • In genetics: 281
• Year to date:
  • Site-wide: 4,266
• Since beginning of last month:
  • Site-wide: 20,231

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

• Downloaded 2,851 times
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  • Site-wide: 7,619
  • In genetics: 280
• Year to date:
  • Site-wide: 95,775
• Since beginning of last month:
  • Site-wide: 31,913

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

• Downloaded 2,595 times
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  • Site-wide: 8,755
  • In genetics: 324
• Year to date:
  • Site-wide: 176,235
• Since beginning of last month:
  • Site-wide: 198,892

Insights from complex trait fine-mapping across diverse populations

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  • Site-wide: 8,848
  • In genetic and genomic medicine: 56
• Year to date:
  • Site-wide: 2,729
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  • Site-wide: 4,616

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

• Downloaded 2,453 times
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  • Site-wide: 9,536
  • In genetics: 362
• Year to date:
  • Site-wide: 131,569
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  • Site-wide: 107,992

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

• 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

• Downloaded 2,264 times
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  • 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

• Downloaded 2,261 times
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  • Site-wide: 10,801
  • In genetics: 402
• Year to date:
  • Site-wide: 72,633
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  • Site-wide: 48,620

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

• Downloaded 2,208 times
• Download rankings, all-time:
  • Site-wide: 11,191
  • In genomics: 1,009
• Year to date:
  • Site-wide: 87,517
• Since beginning of last month:
  • Site-wide: 66,670

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

• 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
• Since beginning of last month:
  • Site-wide: 1,229

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

• Downloaded 2,065 times
• Download rankings, all-time:
  • Site-wide: 12,384
  • In genetics: 457
• Year to date:
  • Site-wide: 104,348
• Since beginning of last month:
  • Site-wide: 34,482

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

• Downloaded 1,956 times
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  • 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

• 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

• 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

• 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

• 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

• 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

• Downloaded 1,603 times
• Download rankings, all-time:
  • Site-wide: 18,251
  • In genetics: 725
• Year to date:
  • Site-wide: 82,333
• Since beginning of last month:
  • Site-wide: 131,338

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,522 times
• Download rankings, all-time:
  • Site-wide: 19,774
  • In genetics: 807
• Year to date:
  • Site-wide: 72,782
• Since beginning of last month:
  • Site-wide: 38,557

Sleep apnoea is a risk factor for severe COVID-19

• Downloaded 1,346 times
• Download rankings, all-time:
  • Site-wide: 24,086
  • In infectious diseases: 2,508
• Year to date:
  • Site-wide: 75,835
• Since beginning of last month:
  • Site-wide: 74,421

Genetic associations of protein-coding variants in human disease

• Downloaded 1,337 times
• Download rankings, all-time:
  • 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

• Downloaded 1,297 times
• Download rankings, all-time:
  • Site-wide: 25,575
  • In genomics: 2,349
• Year to date:
  • Site-wide: 12,823
• Since beginning of last month:
  • Site-wide: 36,266

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

• Downloaded 1,267 times
• Download rankings, all-time:
  • 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.

• Downloaded 1,261 times
• Download rankings, all-time:
  • Site-wide: 26,789
  • In genetics: 1,046
• Year to date:
  • Site-wide: 162,930
• Since beginning of last month:
  • Site-wide: 125,366

Genomic prediction of coronary heart disease

• Downloaded 1,233 times
• Download rankings, all-time:
  • Site-wide: 27,707
  • In genomics: 2,301
• Year to date:
  • Site-wide: 193,966
• Since beginning of last month:
  • Site-wide: 124,115

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

• Downloaded 1,173 times
• Download rankings, all-time:
  • Site-wide: 29,959
  • In genetics: 1,204
• Year to date:
  • Site-wide: 135,938
• Since beginning of last month:
  • 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

• Downloaded 1,150 times
• Download rankings, all-time:
  • 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

• Downloaded 1,146 times
• Download rankings, all-time:
  • Site-wide: 31,089
  • In genomics: 2,528
• Year to date:
  • Site-wide: 187,790
• Since beginning of last month:
  • Site-wide: 124,161

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

• Downloaded 1,140 times
• Download rankings, all-time:
  • Site-wide: 31,316
  • In genetic and genomic medicine: 185
• Year to date:
  • Site-wide: 30,730
• Since beginning of last month:
  • Site-wide: 50,326

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

• Downloaded 1,127 times
• Download rankings, all-time:
  • Site-wide: 31,914
  • In genetics: 1,253
• Year to date:
  • Site-wide: 175,845
• Since beginning of last month:
  • Site-wide: 148,142

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

• Downloaded 1,125 times
• Download rankings, all-time:
  • Site-wide: 32,000
  • In genetics: 1,345
• Year to date:
  • Site-wide: 31,960
• Since beginning of last month:
  • Site-wide: 27,866

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

• Downloaded 1,103 times
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  • Site-wide: 32,972
  • In genetics: 1,302
• Year to date:
  • Site-wide: 124,653
• Since beginning of last month:
  • Site-wide: 78,654

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

• Downloaded 1,098 times
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  • Site-wide: 33,227
  • In genetic and genomic medicine: 195
• Year to date:
  • Site-wide: 25,503
• Since beginning of last month:
  • Site-wide: 104,502

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

• Downloaded 1,080 times
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  • Site-wide: 34,035
  • In genetic and genomic medicine: 221
• Year to date:
  • Site-wide: 16,846
• Since beginning of last month:
  • Site-wide: 15,818

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

• Downloaded 1,055 times
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  • Site-wide: 35,300
  • In oncology: 57
• Year to date:
  • Site-wide: 140,055
• Since beginning of last month:
  • Site-wide: 144,437

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

• Downloaded 1,052 times
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  • Site-wide: 35,437
  • In genomics: 2,782
• Year to date:
  • 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

• Downloaded 1,046 times
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  • Site-wide: 35,787
  • In genetics: 1,400
• Year to date:
  • Site-wide: 141,515
• Since beginning of last month:
  • Site-wide: 124,331

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

• Downloaded 1,005 times
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  • Site-wide: 37,965
  • In genetics: 1,489
• Year to date:
  • Site-wide: 101,620
• Since beginning of last month:
  • Site-wide: 144,288

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 988 times
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  • Site-wide: 39,007
  • In genetics: 1,547
• Year to date:
  • Site-wide: 126,673
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  • Site-wide: 66,692

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

• Downloaded 977 times
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  • Site-wide: 39,661
  • In genetic and genomic medicine: 324
• Year to date:
  • Site-wide: 3,504
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  • Site-wide: 2,920

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

• Downloaded 966 times
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  • Site-wide: 40,430
  • In genetic and genomic medicine: 296
• Year to date:
  • Site-wide: 3,578
• Since beginning of last month:
  • Site-wide: 14,289

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

• 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

• Downloaded 868 times
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  • Site-wide: 47,597
  • In neuroscience: 6,881
• Year to date:
  • Site-wide: 21,815
• Since beginning of last month:
  • Site-wide: 135,395

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

• Downloaded 865 times
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  • Site-wide: 47,838
  • In genomics: 3,472
• Year to date:
  • Site-wide: 192,766
• Since beginning of last month:
  • Site-wide: 198,066

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

• Downloaded 822 times
• Download rankings, all-time:
  • 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

• Downloaded 816 times
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  • Site-wide: 52,276
  • In genomics: 3,777
• Year to date:
  • 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

• Downloaded 798 times
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  • Site-wide: 53,981
  • In genomics: 3,859
• Year to date:
  • Site-wide: 147,124
• Since beginning of last month:
  • Site-wide: 167,302

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

• Downloaded 793 times
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  • Site-wide: 54,472
  • In genetics: 2,124
• Year to date:
  • Site-wide: 145,786
• Since beginning of last month:
  • Site-wide: 76,178

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

• Downloaded 761 times
• Download rankings, all-time:
  • Site-wide: 57,829
  • In genomics: 4,126
• Year to date:
  • Site-wide: 94,737
• Since beginning of last month:
  • Site-wide: 140,510

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

• Downloaded 748 times
• Download rankings, all-time:
  • Site-wide: 59,334
  • In cardiovascular medicine: 125
• Year to date:
  • Site-wide: 37,579
• Since beginning of last month:
  • Site-wide: 61,667

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

• Downloaded 747 times
• Download rankings, all-time:
  • Site-wide: 59,435
  • In genomics: 4,088
• Year to date:
  • Site-wide: 169,805
• Since beginning of last month:
  • Site-wide: 106,548

Identification of pathogenic variant enriched regions across genes and gene families

• Downloaded 739 times
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  • Site-wide: 60,382
  • In genetics: 2,302
• Year to date:
  • Site-wide: 195,603
• Since beginning of last month:
  • Site-wide: 168,265

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

• Downloaded 694 times
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  • Site-wide: 66,146
  • In genetics: 2,534
• Year to date:
  • Site-wide: 156,114
• Since beginning of last month:
  • Site-wide: 126,544

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

• Downloaded 534 times
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  • Site-wide: 92,611
  • In genetics: 3,461
• Year to date:
  • Site-wide: 206,364
• Since beginning of last month:
  • 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

• Downloaded 520 times
• Download rankings, all-time:
  • Site-wide: 95,395
  • In genetic and genomic medicine: None
• Year to date:
  • Site-wide: 9,904
• Since beginning of last month:
  • Site-wide: 10,994

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

• Downloaded 499 times
• Download rankings, all-time:
  • Site-wide: 100,089
  • In genetic and genomic medicine: 602
• Year to date:
  • Site-wide: 157,348
• Since beginning of last month:
  • 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

• Downloaded 493 times
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  • Site-wide: 101,609
  • In genetic and genomic medicine: 626
• Year to date:
  • Site-wide: 48,654
• Since beginning of last month:
  • Site-wide: 157,174

Association of Structural Variation with Cardiometabolic Traits in Finns

• Downloaded 491 times
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  • Site-wide: 102,042
  • In genetics: 3,799
• Year to date:
  • 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

• Downloaded 458 times
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  • Site-wide: 109,838
  • In genetic and genomic medicine: 730
• Year to date:
  • Site-wide: 65,763
• Since beginning of last month:
  • Site-wide: 30,132

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

• Downloaded 457 times
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  • Site-wide: 110,088
  • In genetic and genomic medicine: 690
• Year to date:
  • Site-wide: 66,296
• Since beginning of last month:
  • Site-wide: 152,119

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

• Downloaded 415 times
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  • Site-wide: 120,598
  • In cardiovascular medicine: 350
• Year to date:
  • Site-wide: 22,600
• Since beginning of last month:
  • Site-wide: 49,770

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

• Downloaded 414 times
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  • Site-wide: 120,889
  • In genomics: 6,738
• Year to date:
  • Site-wide: 166,099
• Since beginning of last month:
  • Site-wide: 94,745

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

• Downloaded 414 times
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  • Site-wide: 120,828
  • In genomics: 6,605
• Year to date:
  • Site-wide: 204,468
• Since beginning of last month:
  • Site-wide: 202,933

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

• Downloaded 413 times
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  • Site-wide: 121,033
  • In genetics: 4,548
• Year to date:
  • Site-wide: 190,174
• Since beginning of last month:
  • Site-wide: 125,533

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

• Downloaded 405 times
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  • Site-wide: 123,398
  • In epidemiology: 5,088
• Year to date:
  • Site-wide: 187,793
• Since beginning of last month:
  • Site-wide: 166,489

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

• Downloaded 367 times
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  • Site-wide: 134,321
  • In genetic and genomic medicine: 898
• Year to date:
  • Site-wide: 68,513
• Since beginning of last month:
  • Site-wide: 81,768

Re-contacting biobank participants: lessons from a pilot study within FinnGen

• Downloaded 237 times
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  • Site-wide: 172,245
  • In public and global health: 2,469
• Year to date:
  • Site-wide: 34,982
• Since beginning of last month:
  • Site-wide: 77,148

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

• Downloaded 224 times
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  • Site-wide: 175,592
  • In genetic and genomic medicine: 1,224
• Year to date:
  • Site-wide: 91,929
• Since beginning of last month:
  • Site-wide: 154,640

Functional characterization of six SLCO1B1 (OATP1B1) variants observed in Finnish individuals with a psychotic disorder

• Downloaded 87 times
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  • Site-wide: 202,724
  • In genetic and genomic medicine: None
• Year to date:
  • Site-wide: 105,646
• Since beginning of last month:
  • Site-wide: 131,612