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Author: Ben Neale

Rankings

  • All-time downloads: 249,187 (rank: 190 )
  • Categories:
    • addiction medicine: 1,147 (rank: 60 (tie) )
    • bioinformatics: 13,060 (rank: 571 )
    • cardiovascular medicine: 269 (rank: 2,302 (tie) )
    • developmental biology: 319 (rank: 15,517 (tie) )
    • evolutionary biology: 2,968 (rank: 1,538 (tie) )
    • genetic and genomic medicine: 11,602 (rank: 61 )
    • genetics: 118,314 (rank: 12 )
    • genomics: 98,045 (rank: 107 )
    • psychiatry and clinical psychology: 3,463 (rank: 199 (tie) )

Downloads per author, site-wide

Preprints

Insights from complex trait fine-mapping across diverse populations

genetic and genomic medicine more details view paper

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

neuroscience more details view paper

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

genomics more details view paper
  • Downloaded 22,118 times
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    • Site-wide: 359
    • In genomics: 13
  • Year to date:
    • Site-wide: 30,467
  • Since beginning of last month:
    • Site-wide: 94,344

An Atlas of Genetic Correlations across Human Diseases and Traits

genomics more details view paper
  • Downloaded 14,665 times
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    • Site-wide: 578
    • In genomics: 31
  • Year to date:
    • Site-wide: 14,638
  • Since beginning of last month:
    • Site-wide: 76,081

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

genetics more details view paper
  • Downloaded 11,625 times
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    • Site-wide: 792
    • In genetics: 18
  • Year to date:
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An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,182 times
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    • Site-wide: 834
    • In genomics: 57
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    • Site-wide: 11,322
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    • Site-wide: 96,289

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 8,989 times
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    • Site-wide: 1,105
    • In genomics: 81
  • Year to date:
    • Site-wide: 2,105
  • Since beginning of last month:
    • Site-wide: 17,452

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 8,485 times
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    • Site-wide: 1,192
    • In genetics: 30
  • Year to date:
    • Site-wide: 2,828
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    • Site-wide: 29,674

Partitioning heritability by functional category using GWAS summary statistics

genetics more details view paper
  • Downloaded 8,100 times
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    • Site-wide: 1,257
    • In genetics: 33
  • Year to date:
    • Site-wide: 12,820
  • Since beginning of last month:
    • Site-wide: 93,950

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

bioinformatics more details view paper
  • Downloaded 7,376 times
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    • Site-wide: 1,419
    • In bioinformatics: 84
  • Year to date:
    • Site-wide: 37,474
  • Since beginning of last month:
    • Site-wide: 75,918

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

genomics more details view paper
  • Downloaded 7,211 times
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    • Site-wide: 1,455
    • In genomics: 119
  • Year to date:
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New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,183 times
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    • Site-wide: 1,461
    • In genetics: 44
  • Year to date:
    • Site-wide: 75,689
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    • Site-wide: 107,479

MTAG: Multi-Trait Analysis of GWAS

genomics more details view paper
  • Downloaded 6,829 times
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    • Site-wide: 1,546
    • In genomics: 128
  • Year to date:
    • Site-wide: 21,611
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    • Site-wide: 67,551

Current clinical use of polygenic scores will risk exacerbating health disparities

genetics more details view paper
  • Downloaded 6,709 times
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    • Site-wide: 1,592
    • In genetics: 47
  • Year to date:
    • Site-wide: 13,994
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    • Site-wide: 77,023

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

genetic and genomic medicine more details view paper
  • Downloaded 4,806 times
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    • Site-wide: 2,521
    • In genetic and genomic medicine: 11
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    • Site-wide: 946
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Regulatory variants explain much more heritability than coding variants across 11 common diseases

genetics more details view paper
  • Downloaded 4,487 times
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    • Site-wide: 2,769
    • In genetics: 91
  • Year to date:
    • Site-wide: 110,571
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    • Site-wide: 106,960

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

genetics more details view paper
  • Downloaded 4,388 times
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    • Site-wide: 2,860
    • In genetics: 95
  • Year to date:
    • Site-wide: 68,866
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    • Site-wide: 27,474

Phenome-wide Heritability Analysis of the UK Biobank

genetics more details view paper
  • Downloaded 4,034 times
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    • Site-wide: 3,233
    • In genetics: 108
  • Year to date:
    • Site-wide: 123,852
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    • Site-wide: 107,209

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

genomics more details view paper
  • Downloaded 3,953 times
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    • Site-wide: 3,331
    • In genomics: 344
  • Year to date:
    • Site-wide: 12,032
  • Since beginning of last month:
    • Site-wide: 31,091

Genetic analyses identify widespread sex-differential participation bias

genetics more details view paper
  • Downloaded 3,560 times
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    • Site-wide: 3,852
    • In genetics: 137
  • Year to date:
    • Site-wide: 6,224
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Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes

genetic and genomic medicine more details view paper
  • Downloaded 3,306 times
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    • Site-wide: 4,278
    • In genetic and genomic medicine: 17
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    • Site-wide: 688
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    • Site-wide: 245

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

genetics more details view paper
  • Downloaded 3,209 times
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    • Site-wide: 4,480
    • In genetics: 173
  • Year to date:
    • Site-wide: 83,846
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    • Site-wide: 67,997

Human demographic history impacts genetic risk prediction across diverse populations

genomics more details view paper
  • Downloaded 3,196 times
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    • Site-wide: 4,514
    • In genomics: 462
  • Year to date:
    • Site-wide: 47,477
  • Since beginning of last month:
    • Site-wide: 16,825

New synthetic-diploid benchmark for accurate variant calling evaluation

bioinformatics more details view paper
  • Downloaded 3,194 times
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    • Site-wide: 4,521
    • In bioinformatics: 432
  • Year to date:
    • Site-wide: 72,650
  • Since beginning of last month:
    • Site-wide: 95,269

Haplotypes of common SNPs can explain missing heritability of complex diseases

genetics more details view paper
  • Downloaded 3,159 times
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    • Site-wide: 4,585
    • In genetics: 180
  • Year to date:
    • Site-wide: 63,389
  • Since beginning of last month:
    • Site-wide: 18,801

A global view of pleiotropy and genetic architecture in complex traits

genetics more details view paper
  • Downloaded 3,046 times
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    • Site-wide: 4,789
    • In genetics: 194
  • Year to date:
    • Site-wide: 9,086
  • Since beginning of last month:
    • Site-wide: 1,483

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

evolutionary biology more details view paper
  • Downloaded 2,968 times
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    • Site-wide: 4,971
    • In evolutionary biology: 101
  • Year to date:
    • Site-wide: 80,336
  • Since beginning of last month:
    • Site-wide: 51,275

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

genomics more details view paper
  • Downloaded 2,917 times
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    • Site-wide: 5,093
    • In genomics: 517
  • Year to date:
    • Site-wide: 24,420
  • Since beginning of last month:
    • Site-wide: 10,176

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

psychiatry and clinical psychology more details view paper
  • Downloaded 2,857 times
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    • Site-wide: 5,241
    • In psychiatry and clinical psychology: 20
  • Year to date:
    • Site-wide: 1,759
  • Since beginning of last month:
    • Site-wide: 73,602

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

genetics more details view paper
  • Downloaded 2,853 times
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    • Site-wide: 5,253
    • In genetics: 213
  • Year to date:
    • Site-wide: 7,852
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    • Site-wide: 66,611

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

genetics more details view paper
  • Downloaded 2,853 times
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    • Site-wide: 5,255
    • In genetics: 214
  • Year to date:
    • Site-wide: 72,370
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    • Site-wide: None

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

genetics more details view paper
  • Downloaded 2,674 times
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    • Site-wide: 5,757
    • In genetics: 244
  • Year to date:
    • Site-wide: 89,574
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    • Site-wide: 107,343

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

genetics more details view paper
  • Downloaded 2,582 times
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    • Site-wide: 6,065
    • In genetics: 256
  • Year to date:
    • Site-wide: 24,838
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

genetics more details view paper
  • Downloaded 2,530 times
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    • Site-wide: 6,284
    • In genetics: 268
  • Year to date:
    • Site-wide: 118,425
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    • Site-wide: 107,021

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

bioinformatics more details view paper
  • Downloaded 2,490 times
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    • Site-wide: 6,426
    • In bioinformatics: 685
  • Year to date:
    • Site-wide: 72,658
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A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 2,419 times
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    • Site-wide: 6,707
    • In genetic and genomic medicine: 30
  • Year to date:
    • Site-wide: 1,018
  • Since beginning of last month:
    • Site-wide: 836

Comparative genetic architectures of schizophrenia in East Asian and European populations

genetics more details view paper
  • Downloaded 2,355 times
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    • Site-wide: 6,973
    • In genetics: 305
  • Year to date:
    • Site-wide: 45,364
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    • Site-wide: 89,729

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

genetics more details view paper
  • Downloaded 2,331 times
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    • Site-wide: 7,069
    • In genetics: 309
  • Year to date:
    • Site-wide: 114,491
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    • Site-wide: 76,145

Efficient Bayesian mixed model analysis increases association power in large cohorts

genetics more details view paper
  • Downloaded 2,304 times
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    • Site-wide: 7,196
    • In genetics: 317
  • Year to date:
    • Site-wide: 96,646
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

genomics more details view paper
  • Downloaded 2,108 times
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    • Site-wide: 8,194
    • In genomics: 848
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    • Site-wide: 142,679
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Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

genomics more details view paper
  • Downloaded 2,085 times
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    • Site-wide: 8,309
    • In genomics: 858
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    • Site-wide: 4,824
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    • Site-wide: 57,337

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

genetics more details view paper
  • Downloaded 2,070 times
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    • Site-wide: 8,383
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    • Site-wide: 64,265
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Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

genetics more details view paper
  • Downloaded 1,935 times
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    • Site-wide: 9,287
    • In genetics: 396
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    • Site-wide: 74,700
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
  • Downloaded 1,830 times
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    • Site-wide: 10,089
    • In genetics: 448
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    • Site-wide: 71,456
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    • Site-wide: 76,149

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

genetics more details view paper
  • Downloaded 1,818 times
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    • Site-wide: 10,189
    • In genetics: 450
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    • Site-wide: 44,810
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    • Site-wide: 94,183

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

genomics more details view paper
  • Downloaded 1,734 times
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    • Site-wide: 10,934
    • In genomics: 1,124
  • Year to date:
    • Site-wide: 1,566
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    • Site-wide: 701

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
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    • Site-wide: 11,037
    • In genomics: 1,138
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    • Site-wide: 89,840
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

genetics more details view paper
  • Downloaded 1,681 times
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    • Site-wide: 11,427
    • In genetics: 509
  • Year to date:
    • Site-wide: 144,209
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Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

genomics more details view paper
  • Downloaded 1,627 times
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    • Site-wide: 12,011
    • In genomics: 1,232
  • Year to date:
    • Site-wide: 13,997
  • Since beginning of last month:
    • Site-wide: 119,091

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

genetics more details view paper
  • Downloaded 1,545 times
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    • Site-wide: 12,878
    • In genetics: 586
  • Year to date:
    • Site-wide: 141,558
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    • Site-wide: 107,243

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

genetics more details view paper
  • Downloaded 1,489 times
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    • Site-wide: 13,653
    • In genetics: 624
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    • Site-wide: 110,904
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,487 times
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    • Site-wide: 13,673
    • In genomics: 1,399
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    • Site-wide: 98,881
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    • Site-wide: 37,926

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

genetics more details view paper
  • Downloaded 1,432 times
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    • Site-wide: 14,511
    • In genetics: 664
  • Year to date:
    • Site-wide: 92,038
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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,345 times
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    • Site-wide: 15,946
    • In genetics: 735
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    • Site-wide: 29,422
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    • Site-wide: 8,657

Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

genetics more details view paper
  • Downloaded 1,300 times
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    • Site-wide: 16,818
    • In genetics: 780
  • Year to date:
    • Site-wide: 57,253
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    • Site-wide: 16,099

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

genomics more details view paper
  • Downloaded 1,230 times
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    • Site-wide: 18,235
    • In genomics: 1,770
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    • Site-wide: 103,284
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    • Site-wide: 89,506

The genetic architecture of sporadic and recurrent miscarriage

genetics more details view paper
  • Downloaded 1,197 times
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    • Site-wide: 18,978
    • In genetics: 881
  • Year to date:
    • Site-wide: 60,927
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    • Site-wide: 38,219

Subtle stratification confounds estimates of heritability from rare variants

genetics more details view paper
  • Downloaded 1,197 times
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    • Site-wide: 18,986
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    • Site-wide: 90,666
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    • Site-wide: 93,981

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

genetics more details view paper
  • Downloaded 1,187 times
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    • Site-wide: 19,221
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  • Year to date:
    • Site-wide: 114,381
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    • Site-wide: None

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

genomics more details view paper
  • Downloaded 1,160 times
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    • Site-wide: 19,875
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    • Site-wide: 143,269
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Ancestry May Confound Genetic Machine Learning: Candidate-Gene Prediction of Opioid Use Disorder as an Example

addiction medicine more details view paper
  • Downloaded 1,147 times
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    • Site-wide: 20,204
    • In addiction medicine: 5
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    • Site-wide: 7,033
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    • Site-wide: 69,592

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

genetics more details view paper
  • Downloaded 1,101 times
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    • Site-wide: 21,473
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    • Site-wide: 95,775
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    • Site-wide: 76,153

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

genetics more details view paper
  • Downloaded 1,097 times
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    • Site-wide: 21,603
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    • Site-wide: 98,660
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Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

genetics more details view paper
  • Downloaded 990 times
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    • Site-wide: 25,064
    • In genetics: 1,148
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    • Site-wide: 114,521
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    • Site-wide: 39,153

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 874 times
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    • Site-wide: 29,957
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  • Year to date:
    • Site-wide: 100,011
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    • Site-wide: 108,143

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

genomics more details view paper
  • Downloaded 872 times
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    • Site-wide: 30,074
    • In genomics: 2,654
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    • Site-wide: 146,678
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    • Site-wide: 110,225

Genetic markers of ADHD-related variations in intracranial volume

genetics more details view paper
  • Downloaded 864 times
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    • Site-wide: 30,510
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  • Year to date:
    • Site-wide: 77,917
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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
  • Downloaded 796 times
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    • Site-wide: 34,139
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    • Site-wide: 24,634
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    • Site-wide: 16,960

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

genetics more details view paper
  • Downloaded 789 times
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    • Site-wide: 34,607
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    • Site-wide: 117,100
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Exome sequencing in bipolar disorder reveals shared risk gene AKAP11 with schizophrenia

genetic and genomic medicine more details view paper
  • Downloaded 751 times
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    • Site-wide: 37,105
    • In genetic and genomic medicine: 145
  • Year to date:
    • Site-wide: 4,983
  • Since beginning of last month:
    • Site-wide: 2,713

Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

genetics more details view paper
  • Downloaded 745 times
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    • Site-wide: 37,548
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    • Site-wide: 53,461
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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

genomics more details view paper
  • Downloaded 745 times
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    • Site-wide: 37,494
    • In genomics: 3,109
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    • Site-wide: 150,146
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Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

genetics more details view paper
  • Downloaded 743 times
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    • Site-wide: 37,643
    • In genetics: 1,702
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    • Site-wide: 130,399
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Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

genomics more details view paper
  • Downloaded 693 times
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    • Site-wide: 41,306
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    • Site-wide: 106,813
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RICOPILI: Rapid Imputation for COnsortias PIpeLIne

genetics more details view paper
  • Downloaded 660 times
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    • Site-wide: 44,099
    • In genetics: 1,967
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    • Site-wide: 138,951
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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
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Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation

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

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Meta-analysis of Scandinavian Schizophrenia Exomes

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

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Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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

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

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

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

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Analysis of genetic dominance in the UK Biobank

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