Author: Benjamin M Neale

Downloads per author, site-wide

Preprints

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

• Downloaded 22,372 times
• Download rankings, all-time:
  • Site-wide: 470
  • In genomics: 13
• Year to date:
  • Site-wide: 32,486
• Since beginning of last month:
  • Site-wide: 36,612

An Atlas of Genetic Correlations across Human Diseases and Traits

• Downloaded 15,174 times
• Download rankings, all-time:
  • Site-wide: 747
  • In genomics: 32
• Year to date:
  • Site-wide: 14,233
• Since beginning of last month:
  • Site-wide: 21,596

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

• Downloaded 12,423 times
• Download rankings, all-time:
  • Site-wide: 974
  • In genetics: 18
• Year to date:
  • Site-wide: 8,078
• Since beginning of last month:
  • Site-wide: 14,616

An open resource of structural variation for medical and population genetics

• Downloaded 11,541 times
• Download rankings, all-time:
  • Site-wide: 1,066
  • In genomics: 61
• Year to date:
  • Site-wide: 21,503
• Since beginning of last month:
  • Site-wide: 23,437

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 10,681 times
• Download rankings, all-time:
  • Site-wide: 1,181
  • In genomics: 77
• Year to date:
  • Site-wide: 1,688
• Since beginning of last month:
  • Site-wide: 979

Common risk variants identified in autism spectrum disorder

• Downloaded 9,146 times
• Download rankings, all-time:
  • Site-wide: 1,417
  • In genetics: 28
• Year to date:
  • Site-wide: 27,784
• Since beginning of last month:
  • Site-wide: 22,635

Partitioning heritability by functional category using GWAS summary statistics

• Downloaded 8,640 times
• Download rankings, all-time:
  • Site-wide: 1,535
  • In genetics: 33
• Year to date:
  • Site-wide: 11,511
• Since beginning of last month:
  • Site-wide: 11,990

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

• Downloaded 8,034 times
• Download rankings, all-time:
  • Site-wide: 1,690
  • In genetic and genomic medicine: 10
• Year to date:
  • Site-wide: 674
• Since beginning of last month:
  • Site-wide: 2,570

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

• Downloaded 7,532 times
• Download rankings, all-time:
  • Site-wide: 1,820
  • In bioinformatics: 93
• Year to date:
  • Site-wide: 59,109
• Since beginning of last month:
  • Site-wide: 71,771

LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

• Downloaded 7,342 times
• Download rankings, all-time:
  • Site-wide: 1,874
  • In genomics: 128
• Year to date:
  • Site-wide: 66,333
• Since beginning of last month:
  • Site-wide: 71,987

New mutations, old statistical challenges

• Downloaded 7,293 times
• Download rankings, all-time:
  • Site-wide: 1,889
  • In genetics: 44
• Year to date:
  • Site-wide: 117,671
• Since beginning of last month:
  • Site-wide: 146,556

MTAG: Multi-Trait Analysis of GWAS

• Downloaded 7,233 times
• Download rankings, all-time:
  • Site-wide: 1,915
  • In genomics: 132
• Year to date:
  • Site-wide: 18,894
• Since beginning of last month:
  • Site-wide: 33,308

Current clinical use of polygenic scores will risk exacerbating health disparities

• Downloaded 7,027 times
• Download rankings, all-time:
  • Site-wide: 2,001
  • In genetics: 47
• Year to date:
  • Site-wide: 34,341
• Since beginning of last month:
  • Site-wide: 27,840

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

• Downloaded 5,751 times
• Download rankings, all-time:
  • Site-wide: 2,614
  • In genetic and genomic medicine: 15
• Year to date:
  • Site-wide: 967
• Since beginning of last month:
  • Site-wide: 339

Regulatory variants explain much more heritability than coding variants across 11 common diseases

• Downloaded 4,588 times
• Download rankings, all-time:
  • Site-wide: 3,564
  • In genetics: 94
• Year to date:
  • Site-wide: 99,424
• Since beginning of last month:
  • Site-wide: 182,953

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

• Downloaded 4,463 times
• Download rankings, all-time:
  • Site-wide: 3,693
  • In genetics: 100
• Year to date:
  • Site-wide: 99,076
• Since beginning of last month:
  • Site-wide: 112,310

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

• Downloaded 4,291 times
• Download rankings, all-time:
  • Site-wide: 3,879
  • In genomics: 347
• Year to date:
  • Site-wide: 39,727
• Since beginning of last month:
  • Site-wide: 85,859

Phenome-wide Heritability Analysis of the UK Biobank

• Downloaded 4,141 times
• Download rankings, all-time:
  • Site-wide: 4,086
  • In genetics: 117
• Year to date:
  • Site-wide: 70,244
• Since beginning of last month:
  • Site-wide: 29,184

Genetic analyses identify widespread sex-differential participation bias

• Downloaded 3,891 times
• Download rankings, all-time:
  • Site-wide: 4,459
  • In genetics: 136
• Year to date:
  • Site-wide: 38,540
• Since beginning of last month:
  • Site-wide: 13,487

A global view of pleiotropy and genetic architecture in complex traits

• Downloaded 3,557 times
• Download rankings, all-time:
  • Site-wide: 5,071
  • In genetics: 182
• Year to date:
  • Site-wide: 10,033
• Since beginning of last month:
  • Site-wide: 10,938

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

• Downloaded 3,452 times
• Download rankings, all-time:
  • Site-wide: 5,312
  • In psychiatry and clinical psychology: 21
• Year to date:
  • Site-wide: 12,607
• Since beginning of last month:
  • Site-wide: 6,474

Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

• Downloaded 3,329 times
• Download rankings, all-time:
  • Site-wide: 5,593
  • In genetics: 189
• Year to date:
  • Site-wide: 121,721
• Since beginning of last month:
  • Site-wide: 115,635

New synthetic-diploid benchmark for accurate variant calling evaluation

• Downloaded 3,319 times
• Download rankings, all-time:
  • Site-wide: 5,619
  • In bioinformatics: 476
• Year to date:
  • Site-wide: 91,954
• Since beginning of last month:
  • Site-wide: 104,858

Human demographic history impacts genetic risk prediction across diverse populations

• Downloaded 3,308 times
• Download rankings, all-time:
  • Site-wide: 5,658
  • In genomics: 511
• Year to date:
  • Site-wide: 68,889
• Since beginning of last month:
  • Site-wide: 56,954

A cross-disorder dosage sensitivity map of the human genome

• Downloaded 3,290 times
• Download rankings, all-time:
  • Site-wide: 5,701
  • In genetic and genomic medicine: 29
• Year to date:
  • Site-wide: 3,896
• Since beginning of last month:
  • Site-wide: 5,978

Haplotypes of common SNPs can explain missing heritability of complex diseases

• Downloaded 3,231 times
• Download rankings, all-time:
  • Site-wide: 5,846
  • In genetics: 198
• Year to date:
  • Site-wide: 154,478
• Since beginning of last month:
  • Site-wide: 160,746

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

• Downloaded 3,197 times
• Download rankings, all-time:
  • Site-wide: 5,947
  • In genetics: 211
• Year to date:
  • Site-wide: 30,796
• Since beginning of last month:
  • Site-wide: 21,544

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

• Downloaded 3,115 times
• Download rankings, all-time:
  • Site-wide: 6,161
  • In evolutionary biology: 109
• Year to date:
  • Site-wide: 81,354
• Since beginning of last month:
  • Site-wide: 163,887

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

• Downloaded 3,018 times
• Download rankings, all-time:
  • Site-wide: 6,471
  • In genomics: 585
• Year to date:
  • Site-wide: 114,643
• Since beginning of last month:
  • Site-wide: 129,814

Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

• Downloaded 2,988 times
• Download rankings, all-time:
  • Site-wide: 6,546
  • In genetics: 232
• Year to date:
  • Site-wide: 83,609
• Since beginning of last month:
  • Site-wide: 91,526

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

• Downloaded 2,794 times
• Download rankings, all-time:
  • Site-wide: 7,205
  • In genetics: 265
• Year to date:
  • Site-wide: 104,257
• Since beginning of last month:
  • Site-wide: 91,958

Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations

• Downloaded 2,792 times
• Download rankings, all-time:
  • Site-wide: 7,211
  • In genomics: 785
• Year to date:
  • Site-wide: 4,419
• Since beginning of last month:
  • Site-wide: 5,449

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.

• Downloaded 2,740 times
• Download rankings, all-time:
  • Site-wide: 7,421
  • In genetics: 274
• Year to date:
  • Site-wide: 142,817
• Since beginning of last month:
  • Site-wide: 139,953

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

• Downloaded 2,715 times
• Download rankings, all-time:
  • Site-wide: 7,526
  • In genetics: None
• Year to date:
  • Site-wide: 420
• Since beginning of last month:
  • Site-wide: 1,520

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

• Downloaded 2,582 times
• Download rankings, all-time:
  • Site-wide: 8,138
  • In genetics: 303
• Year to date:
  • Site-wide: 121,678
• Since beginning of last month:
  • Site-wide: 132,486

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

• Downloaded 2,555 times
• Download rankings, all-time:
  • Site-wide: 8,251
  • In bioinformatics: 784
• Year to date:
  • Site-wide: 111,115
• Since beginning of last month:
  • Site-wide: 143,999

Comparative genetic architectures of schizophrenia in East Asian and European populations

• Downloaded 2,486 times
• Download rankings, all-time:
  • Site-wide: 8,576
  • In genetics: 330
• Year to date:
  • Site-wide: 71,998
• Since beginning of last month:
  • Site-wide: 76,906

Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

• Downloaded 2,456 times
• Download rankings, all-time:
  • Site-wide: 8,717
  • In genomics: 817
• Year to date:
  • Site-wide: 41,331
• Since beginning of last month:
  • Site-wide: 63,248

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

• Downloaded 2,414 times
• Download rankings, all-time:
  • Site-wide: 8,947
  • In genetics: 343
• Year to date:
  • Site-wide: 133,085
• Since beginning of last month:
  • Site-wide: 132,590

Efficient Bayesian mixed model analysis increases association power in large cohorts

• Downloaded 2,402 times
• Download rankings, all-time:
  • Site-wide: 9,023
  • In genetics: 350
• Year to date:
  • Site-wide: 83,584
• Since beginning of last month:
  • Site-wide: 104,308

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

• Downloaded 2,193 times
• Download rankings, all-time:
  • Site-wide: 10,284
  • In genetics: 387
• Year to date:
  • Site-wide: 71,715
• Since beginning of last month:
  • Site-wide: 76,318

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

• Downloaded 2,145 times
• Download rankings, all-time:
  • Site-wide: 10,642
  • In genomics: 953
• Year to date:
  • Site-wide: 176,741
• Since beginning of last month:
  • Site-wide: 177,398

Insights from complex trait fine-mapping across diverse populations

• Downloaded 2,121 times
• Download rankings, all-time:
  • Site-wide: 10,846
  • In genetic and genomic medicine: 71
• Year to date:
  • Site-wide: 3,039
• Since beginning of last month:
  • Site-wide: 4,102

Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases

• Downloaded 2,060 times
• Download rankings, all-time:
  • Site-wide: 11,357
  • In genetic and genomic medicine: 81
• Year to date:
  • Site-wide: 613
• Since beginning of last month:
  • Site-wide: 4,434

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

• Downloaded 2,014 times
• Download rankings, all-time:
  • Site-wide: 11,752
  • In genetics: 434
• Year to date:
  • Site-wide: 110,844
• Since beginning of last month:
  • Site-wide: 85,255

ASD and ADHD have a similar burden of rare protein-truncating variants

• Downloaded 2,008 times
• Download rankings, all-time:
  • Site-wide: 11,786
  • In genetics: 444
• Year to date:
  • Site-wide: 68,865
• Since beginning of last month:
  • Site-wide: 61,978

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

• Downloaded 1,928 times
• Download rankings, all-time:
  • Site-wide: 12,499
  • In genetics: 470
• Year to date:
  • Site-wide: 153,544
• Since beginning of last month:
  • Site-wide: 115,147

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

• Downloaded 1,826 times
• Download rankings, all-time:
  • Site-wide: 13,538
  • In genomics: 1,249
• Year to date:
  • Site-wide: 64,742
• Since beginning of last month:
  • Site-wide: 60,983

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

• Downloaded 1,817 times
• Download rankings, all-time:
  • Site-wide: 13,642
  • In genomics: 1,240
• Year to date:
  • Site-wide: 87,371
• Since beginning of last month:
  • Site-wide: 129,815

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

• Downloaded 1,726 times
• Download rankings, all-time:
  • Site-wide: 14,733
  • In genetics: 576
• Year to date:
  • Site-wide: 145,645
• Since beginning of last month:
  • Site-wide: 146,301

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

• Downloaded 1,588 times
• Download rankings, all-time:
  • Site-wide: 16,724
  • In genetics: 661
• Year to date:
  • Site-wide: 143,983
• Since beginning of last month:
  • Site-wide: 183,001

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

• Downloaded 1,563 times
• Download rankings, all-time:
  • Site-wide: 17,156
  • In genetics: 680
• Year to date:
  • Site-wide: 164,726
• Since beginning of last month:
  • Site-wide: 170,132

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,560 times
• Download rankings, all-time:
  • Site-wide: 17,196
  • In genomics: 1,529
• Year to date:
  • Site-wide: 108,212
• Since beginning of last month:
  • Site-wide: 112,183

Set-based rare variant association tests for biobank scale sequencing data sets

• Downloaded 1,518 times
• Download rankings, all-time:
  • Site-wide: 17,929
  • In genetic and genomic medicine: 204
• Year to date:
  • Site-wide: 2,046
• Since beginning of last month:
  • Site-wide: 1,648

A genetic investigation of sex bias in the prevalence of attention deficit hyperactivity disorder

• Downloaded 1,491 times
• Download rankings, all-time:
  • Site-wide: 18,399
  • In genetics: 741
• Year to date:
  • Site-wide: 125,661
• Since beginning of last month:
  • Site-wide: 77,574

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 1,465 times
• Download rankings, all-time:
  • Site-wide: 18,910
  • In genetics: 795
• Year to date:
  • Site-wide: 61,948
• Since beginning of last month:
  • Site-wide: 49,364

Ancestry May Confound Genetic Machine Learning: Candidate-Gene Prediction of Opioid Use Disorder as an Example

• Downloaded 1,438 times
• Download rankings, all-time:
  • Site-wide: 19,511
  • In addiction medicine: 4
• Year to date:
  • Site-wide: 49,174
• Since beginning of last month:
  • Site-wide: 42,304

Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

• Downloaded 1,371 times
• Download rankings, all-time:
  • Site-wide: 20,959
  • In genetics: 837
• Year to date:
  • Site-wide: 139,882
• Since beginning of last month:
  • Site-wide: 173,078

Exome sequencing in bipolar disorder reveals shared risk gene AKAP11 with schizophrenia

• Downloaded 1,359 times
• Download rankings, all-time:
  • Site-wide: 21,260
  • In genetic and genomic medicine: 147
• Year to date:
  • Site-wide: 6,197
• Since beginning of last month:
  • Site-wide: 7,808

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

• Downloaded 1,318 times
• Download rankings, all-time:
  • Site-wide: 22,314
  • In genomics: 1,878
• Year to date:
  • Site-wide: 154,049
• Since beginning of last month:
  • Site-wide: 175,275

Subtle stratification confounds estimates of heritability from rare variants

• Downloaded 1,284 times
• Download rankings, all-time:
  • Site-wide: 23,232
  • In genetics: 926
• Year to date:
  • Site-wide: 118,177
• Since beginning of last month:
  • Site-wide: 104,351

The genetic architecture of sporadic and recurrent miscarriage

• Downloaded 1,273 times
• Download rankings, all-time:
  • Site-wide: 23,559
  • In genetics: 937
• Year to date:
  • Site-wide: 118,724
• Since beginning of last month:
  • Site-wide: 92,654

A genome-wide association study for shared risk across major psychiatric disorders in a nation-wide birth cohort implicates fetal neurodevelopment as a key mediator

• Downloaded 1,258 times
• Download rankings, all-time:
  • Site-wide: 23,997
  • In genetics: 944
• Year to date:
  • Site-wide: 160,098
• Since beginning of last month:
  • Site-wide: 117,268

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

• Downloaded 1,206 times
• Download rankings, all-time:
  • Site-wide: 25,605
  • In genomics: 2,127
• Year to date:
  • Site-wide: 159,067
• Since beginning of last month:
  • Site-wide: 164,552

The weighting is the hardest part: on the behavior of the likelihood ratio test and score test under weight misspecification in rare variant association studies

• Downloaded 1,172 times
• Download rankings, all-time:
  • Site-wide: 26,734
  • In genetics: 1,038
• Year to date:
  • Site-wide: 154,479
• Since beginning of last month:
  • Site-wide: 170,188

Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

• Downloaded 1,169 times
• Download rankings, all-time:
  • Site-wide: 26,845
  • In genetics: 1,060
• Year to date:
  • Site-wide: 142,782
• Since beginning of last month:
  • Site-wide: 112,279

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

• Downloaded 1,121 times
• Download rankings, all-time:
  • Site-wide: 28,629
  • In genomics: 2,771
• Year to date:
  • Site-wide: 12,545
• Since beginning of last month:
  • Site-wide: 12,019

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

• Downloaded 1,076 times
• Download rankings, all-time:
  • Site-wide: 30,478
  • In psychiatry and clinical psychology: 337
• Year to date:
  • Site-wide: 1,506
• Since beginning of last month:
  • Site-wide: 1,857

Analysis of genetic dominance in the UK Biobank

• Downloaded 1,074 times
• Download rankings, all-time:
  • Site-wide: 30,568
  • In genetics: 1,619
• Year to date:
  • Site-wide: 2,421
• Since beginning of last month:
  • Site-wide: 11,418

Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

• Downloaded 1,029 times
• Download rankings, all-time:
  • Site-wide: 32,568
  • In genetics: 1,297
• Year to date:
  • Site-wide: 148,660
• Since beginning of last month:
  • Site-wide: 143,459

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

• Downloaded 1,020 times
• Download rankings, all-time:
  • Site-wide: 32,980
  • In genetics: 1,534
• Year to date:
  • Site-wide: 29,223
• Since beginning of last month:
  • Site-wide: 30,294

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 956 times
• Download rankings, all-time:
  • Site-wide: 36,296
  • In genetics: 1,439
• Year to date:
  • Site-wide: 145,470
• Since beginning of last month:
  • Site-wide: 132,615

Functional partitioning of local and distal gene expression regulation in multiple human tissues

• Downloaded 953 times
• Download rankings, all-time:
  • Site-wide: 36,476
  • In genomics: 2,789
• Year to date:
  • Site-wide: 186,128
• Since beginning of last month:
  • Site-wide: 169,962

Genetic markers of ADHD-related variations in intracranial volume

• Downloaded 941 times
• Download rankings, all-time:
  • Site-wide: 37,187
  • In genetics: 1,495
• Year to date:
  • Site-wide: 104,349
• Since beginning of last month:
  • Site-wide: 116,201

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

• Downloaded 862 times
• Download rankings, all-time:
  • Site-wide: 42,349
  • In genomics: 3,764
• Year to date:
  • Site-wide: 23,587
• Since beginning of last month:
  • Site-wide: 9,007

Identification of shared and differentiating genetic risk for autism spectrum disorder, attention deficit hyperactivity disorder and case subgroups.

• Downloaded 831 times
• Download rankings, all-time:
  • Site-wide: 44,654
  • In psychiatry and clinical psychology: 176
• Year to date:
  • Site-wide: 34,562
• Since beginning of last month:
  • Site-wide: 34,003

The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders

• Downloaded 822 times
• Download rankings, all-time:
  • Site-wide: 45,404
  • In genetics: 1,750
• Year to date:
  • Site-wide: 181,433
• Since beginning of last month:
  • Site-wide: 183,030

Genome-wide association study identifies new locus associated with OCD

• Downloaded 811 times
• Download rankings, all-time:
  • Site-wide: 46,329
  • In psychiatry and clinical psychology: 263
• Year to date:
  • Site-wide: 8,855
• Since beginning of last month:
  • Site-wide: 8,983

Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

• Downloaded 806 times
• Download rankings, all-time:
  • Site-wide: 46,687
  • In genetics: 1,806
• Year to date:
  • Site-wide: 142,365
• Since beginning of last month:
  • Site-wide: 168,141

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

• Downloaded 797 times
• Download rankings, all-time:
  • Site-wide: 47,549
  • In neuroscience: 8,166
• Year to date:
  • Site-wide: 13,885
• Since beginning of last month:
  • Site-wide: 14,511

Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

• Downloaded 796 times
• Download rankings, all-time:
  • Site-wide: 47,606
  • In genetics: 1,855
• Year to date:
  • Site-wide: 153,625
• Since beginning of last month:
  • Site-wide: 104,589

Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

• Downloaded 792 times
• Download rankings, all-time:
  • Site-wide: 47,966
  • In genomics: 3,439
• Year to date:
  • Site-wide: 166,653
• Since beginning of last month:
  • Site-wide: 169,943

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

• Downloaded 781 times
• Download rankings, all-time:
  • Site-wide: 48,937
  • In genomics: 3,512
• Year to date:
  • Site-wide: 170,725
• Since beginning of last month:
  • Site-wide: 140,826

Patterns of item nonresponse behavior to survey questionnaires are systematic and have a genetic basis

• Downloaded 775 times
• Download rankings, all-time:
  • Site-wide: 49,547
  • In genetics: 2,887
• Year to date:
  • Site-wide: 2,526
• Since beginning of last month:
  • Site-wide: 11,043

Human-specific enrichment of schizophrenia risk-genes in callosal neurons of the developing neocortex

• Downloaded 768 times
• Download rankings, all-time:
  • Site-wide: 50,111
  • In developmental biology: 1,229
• Year to date:
  • Site-wide: 16,319
• Since beginning of last month:
  • Site-wide: 49,553

Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity

• Downloaded 728 times
• Download rankings, all-time:
  • Site-wide: 54,091
  • In allergy and immunology: 174
• Year to date:
  • Site-wide: 6,867
• Since beginning of last month:
  • Site-wide: 14,041

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

• Downloaded 726 times
• Download rankings, all-time:
  • Site-wide: 54,330
  • In genetics: 2,109
• Year to date:
  • Site-wide: 155,706
• Since beginning of last month:
  • Site-wide: 143,343

Meta-analysis of Scandinavian Schizophrenia Exomes

• Downloaded 694 times
• Download rankings, all-time:
  • Site-wide: 57,805
  • In genetics: 2,361
• Year to date:
  • Site-wide: 71,519
• Since beginning of last month:
  • Site-wide: 78,217

Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation

• Downloaded 664 times
• Download rankings, all-time:
  • Site-wide: 61,542
  • In genetics: 2,351
• Year to date:
  • Site-wide: 188,719
• Since beginning of last month:
  • Site-wide: 170,165

A method to exploit the structure of genetic ancestry space to enhance case-control studies

• Downloaded 550 times
• Download rankings, all-time:
  • Site-wide: 78,118
  • In genomics: 4,896
• Year to date:
  • Site-wide: 181,919
• Since beginning of last month:
  • Site-wide: 164,906

Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention deficit hyperactivity disorder

• Downloaded 357 times
• Download rankings, all-time:
  • Site-wide: 121,569
  • In psychiatry and clinical psychology: 613
• Year to date:
  • Site-wide: 60,600
• Since beginning of last month:
  • Site-wide: 99,649

Polygenic risk score from a multi-ancestry GWAS uncovers susceptibility of heart failure

• Downloaded 349 times
• Download rankings, all-time:
  • Site-wide: 123,926
  • In cardiovascular medicine: 485
• Year to date:
  • Site-wide: 18,204
• Since beginning of last month:
  • Site-wide: 42,250

Clinical conditions and their impact on utility of genetic scores for prediction of acute coronary syndrome

• Downloaded 348 times
• Download rankings, all-time:
  • Site-wide: 124,027
  • In cardiovascular medicine: 289
• Year to date:
  • Site-wide: 161,161
• Since beginning of last month:
  • Site-wide: 153,980

Discordant genotype calls across technology platforms elucidate variants with systematic errors in next-generation sequencing

• Downloaded 248 times
• Download rankings, all-time:
  • Site-wide: 153,697
  • In genomics: None
• Year to date:
  • Site-wide: 14,231
• Since beginning of last month:
  • Site-wide: 54,629

Multi-ancestry meta-analysis identifies 2 novel loci associated with ischemic stroke and reveals heterogeneity of effects between sexes and ancestries

• Downloaded 174 times
• Download rankings, all-time:
  • Site-wide: 173,002
  • In genetic and genomic medicine: None
• Year to date:
  • Site-wide: 23,545
• Since beginning of last month:
  • Site-wide: 35,525