Author: Benjamin Neale

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Preprints

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

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  • Site-wide: 497
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  • Site-wide: 40,114
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  • Site-wide: 63,945

An Atlas of Genetic Correlations across Human Diseases and Traits

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  • Site-wide: 775
  • In genomics: 33
• Year to date:
  • Site-wide: 12,858
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  • Site-wide: 25,451

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

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  • Site-wide: 1,001
  • In genetics: 18
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  • Site-wide: 7,883
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  • Site-wide: 8,792

An open resource of structural variation for medical and population genetics

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  • Site-wide: 1,117
  • In genomics: 67
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  • Site-wide: 22,159
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  • Site-wide: 13,187

Regional missense constraint improves variant deleteriousness prediction

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  • Site-wide: 1,156
  • In genomics: 74
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  • Site-wide: 1,507
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  • Site-wide: 1,236

Common risk variants identified in autism spectrum disorder

• Downloaded 9,268 times
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  • Site-wide: 1,490
  • In genetics: 31
• Year to date:
  • Site-wide: 28,530
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  • Site-wide: 22,930

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

• Downloaded 9,041 times
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  • Site-wide: 1,540
  • In genetic and genomic medicine: 9
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  • Site-wide: 518

Partitioning heritability by functional category using GWAS summary statistics

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  • Site-wide: 1,557
  • In genetics: 34
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  • Site-wide: 8,620
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  • Site-wide: 7,238

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 7,568 times
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  • Site-wide: 1,939
  • In bioinformatics: 99
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  • Site-wide: 84,303
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  • Site-wide: None

MTAG: Multi-Trait Analysis of GWAS

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  • Site-wide: 1,985
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  • Site-wide: 17,348
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  • Site-wide: 13,722

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

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  • Site-wide: 1,992
  • In genomics: 140
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  • Site-wide: 37,822

New mutations, old statistical challenges

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  • Site-wide: 2,016
  • In genetics: 47
• Year to date:
  • Site-wide: 131,081
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  • Site-wide: 86,323

Current clinical use of polygenic scores will risk exacerbating health disparities

• Downloaded 7,111 times
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  • Site-wide: 2,116
  • In genetics: 52
• Year to date:
  • Site-wide: 40,939
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  • Site-wide: 32,663

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

• Downloaded 6,394 times
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  • Site-wide: 2,443
  • In genetic and genomic medicine: 12
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  • Site-wide: 1,098
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  • Site-wide: 9,623

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

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  • Site-wide: 3,785
  • In genetics: 103
• Year to date:
  • Site-wide: 105,593
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  • Site-wide: 97,853

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

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  • Site-wide: 3,923
  • In genetics: 109
• Year to date:
  • Site-wide: 112,312
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  • Site-wide: 65,167

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

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  • Site-wide: 4,124
  • In genomics: 368
• Year to date:
  • Site-wide: 54,591
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  • Site-wide: 85,332

Phenome-wide Heritability Analysis of the UK Biobank

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  • Site-wide: 4,370
  • In genetics: 130
• Year to date:
  • Site-wide: 91,857
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  • Site-wide: 112,869

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

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  • Site-wide: 4,496
  • In genetics: 258
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  • Site-wide: 403
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  • Site-wide: 142

Genetic analyses identify widespread sex-differential participation bias

• Downloaded 3,999 times
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  • Site-wide: 4,653
  • In genetics: 139
• Year to date:
  • Site-wide: 37,938
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  • Site-wide: 78,202

A cross-disorder dosage sensitivity map of the human genome

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  • Site-wide: 4,867
  • In genetic and genomic medicine: 26
• Year to date:
  • Site-wide: 2,624
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  • Site-wide: 5,272

A global view of pleiotropy and genetic architecture in complex traits

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  • Site-wide: 4,958
  • In genetics: 168
• Year to date:
  • Site-wide: 8,075
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  • Site-wide: 6,246

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

• Downloaded 3,654 times
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  • Site-wide: 5,324
  • In psychiatry and clinical psychology: 20
• Year to date:
  • Site-wide: 11,842
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  • Site-wide: 18,718

New synthetic-diploid benchmark for accurate variant calling evaluation

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  • Site-wide: 5,994
  • In bioinformatics: 524
• Year to date:
  • Site-wide: 92,068
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  • Site-wide: 58,971

Human demographic history impacts genetic risk prediction across diverse populations

• Downloaded 3,358 times
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  • Site-wide: 6,040
  • In genomics: 552
• Year to date:
  • Site-wide: 82,421
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  • Site-wide: 52,262

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

• Downloaded 3,356 times
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  • Site-wide: 6,049
  • In genetics: 201
• Year to date:
  • Site-wide: 148,502
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  • Site-wide: 113,048

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

• Downloaded 3,295 times
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  • Site-wide: 6,217
  • In genetics: 210
• Year to date:
  • Site-wide: 35,141
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  • Site-wide: 32,705

Haplotypes of common SNPs can explain missing heritability of complex diseases

• Downloaded 3,270 times
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  • Site-wide: 6,281
  • In genetics: 208
• Year to date:
  • Site-wide: 146,681
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  • Site-wide: 85,980

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

• Downloaded 3,187 times
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  • Site-wide: 6,537
  • In genomics: 657
• Year to date:
  • Site-wide: 3,848
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  • Site-wide: 4,480

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

• Downloaded 3,159 times
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  • Site-wide: 6,631
  • In evolutionary biology: 117
• Year to date:
  • Site-wide: 95,752
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  • Site-wide: 86,560

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

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  • Site-wide: 6,795
  • In genomics: 627
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  • Site-wide: 82,359
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  • Site-wide: 24,229

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

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  • Site-wide: 7,014
  • In genetics: 253
• Year to date:
  • Site-wide: 102,355
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  • Site-wide: 112,094

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

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  • Site-wide: 7,631
  • In genetics: 280
• Year to date:
  • Site-wide: 96,915
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  • Site-wide: 37,262

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

• Downloaded 2,762 times
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  • Site-wide: 8,011
  • In genetics: 289
• Year to date:
  • Site-wide: 174,958
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  • Site-wide: 112,513

Insights from complex trait fine-mapping across diverse populations

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  • Site-wide: 8,675
  • In genetic and genomic medicine: 56
• Year to date:
  • Site-wide: 2,627
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  • Site-wide: 3,298

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

• Downloaded 2,595 times
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  • Site-wide: 8,765
  • In genetics: 324
• Year to date:
  • Site-wide: 179,107
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  • Site-wide: 200,986

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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  • Site-wide: 8,814
  • In bioinformatics: 863
• Year to date:
  • Site-wide: 131,067
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  • Site-wide: 133,084

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

• Downloaded 2,543 times
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  • Site-wide: 9,054
  • In genetic and genomic medicine: 58
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  • Site-wide: 825
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  • Site-wide: 3,990

Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 9,093
  • In genetics: 347
• Year to date:
  • Site-wide: 87,220
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  • Site-wide: 52,438

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

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  • Site-wide: 9,255
  • In genomics: 859
• Year to date:
  • Site-wide: 60,818
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  • Site-wide: 72,415

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

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  • Site-wide: 9,554
  • In genetics: 362
• Year to date:
  • Site-wide: 133,404
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  • Site-wide: 112,902

Efficient Bayesian mixed model analysis increases association power in large cohorts

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  • Site-wide: 9,630
  • In genetics: 366
• Year to date:
  • Site-wide: 102,369
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  • Site-wide: 74,401

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: 10,813
  • In genetics: 402
• Year to date:
  • Site-wide: 73,532
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  • Site-wide: 53,431

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

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  • Site-wide: 11,573
  • In genomics: 1,030
• Year to date:
  • Site-wide: 199,725
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  • Site-wide: 171,791

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

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  • Site-wide: 11,892
  • In genetic and genomic medicine: 82
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  • Site-wide: 1,816
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  • Site-wide: 4,840

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

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  • Site-wide: 12,320
  • In genetics: 457
• Year to date:
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ASD and ADHD have a similar burden of rare protein-truncating variants

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  • Site-wide: 12,333
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  • Site-wide: 73,547
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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  • Site-wide: 13,472
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• Year to date:
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  • Site-wide: 202,572

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

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  • Site-wide: 14,074
  • In genomics: 1,268
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  • Site-wide: 54,380

Polygenic architecture of rare coding variation across 400,000 exomes

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  • Site-wide: 14,162
  • In genetic and genomic medicine: 130
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  • Site-wide: 1,274
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  • Site-wide: 1,225

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Site-wide: 14,700
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  • Site-wide: 114,420
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  • Site-wide: 85,829

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

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  • Site-wide: 15,836
  • In psychiatry and clinical psychology: 103
• Year to date:
  • Site-wide: 1,395
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  • Site-wide: 1,080

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

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  • Site-wide: 16,029
  • In genetics: 622
• Year to date:
  • Site-wide: 182,688
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  • Site-wide: 174,048

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

• Downloaded 1,635 times
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  • Site-wide: 17,738
  • In genetic and genomic medicine: 105
• Year to date:
  • Site-wide: 6,059
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  • Site-wide: 39,801

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

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  • Site-wide: 17,953
  • In genetics: 713
• Year to date:
  • Site-wide: 148,895
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  • Site-wide: 64,621

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 18,255
  • In genomics: 1,618
• Year to date:
  • Site-wide: 110,852
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  • Site-wide: 111,104

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

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  • Site-wide: 18,375
  • In genetics: 731
• Year to date:
  • Site-wide: 154,293
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  • Site-wide: 53,256

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

• Downloaded 1,583 times
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  • Site-wide: 18,629
  • In psychiatry and clinical psychology: 192
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  • Site-wide: 4,204
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  • Site-wide: 309

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

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  • Site-wide: 19,392
  • In addiction medicine: 3
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  • Site-wide: 44,853
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  • Site-wide: 14,832

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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  • Site-wide: 20,058
  • In genetics: 807
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  • Site-wide: 78,573
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  • Site-wide: 78,276

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

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  • Site-wide: 20,090
  • In genetics: 791
• Year to date:
  • Site-wide: 167,275
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  • Site-wide: 196,400

Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

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  • Site-wide: 21,706
  • In genetics: 878
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  • Site-wide: 99,797
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  • Site-wide: 32,725

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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  • Site-wide: 23,324
  • In genomics: 2,015
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  • Site-wide: 113,462

Subtle stratification confounds estimates of heritability from rare variants

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  • Site-wide: 25,127
  • In genetics: 982
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  • Site-wide: 143,214
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  • Site-wide: 185,462

The genetic architecture of sporadic and recurrent miscarriage

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  • Site-wide: 25,475
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  • Site-wide: 143,491
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  • Site-wide: 148,746

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
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  • Site-wide: 25,627
  • In genomics: 2,349
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  • Site-wide: 12,992
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  • Site-wide: 40,385

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

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  • Site-wide: 25,985
  • In genetics: 1,015
• Year to date:
  • Site-wide: 172,065
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  • Site-wide: 110,694

Analysis of genetic dominance in the UK Biobank

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  • Site-wide: 26,457
  • In genetics: 1,177
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  • Site-wide: 3,422
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  • Site-wide: 10,296

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

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  • Site-wide: 27,784
  • In genomics: 2,321
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  • Site-wide: 73,972

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

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  • Site-wide: 29,006
  • In genetics: 1,130
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  • Site-wide: 155,912
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  • Site-wide: 135,666

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

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  • Site-wide: 29,282
  • In genetics: 1,129
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  • Site-wide: 187,426
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  • Site-wide: 154,516

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

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  • Site-wide: 32,092
  • In genetics: 1,345
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  • Site-wide: 32,405
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Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

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  • Site-wide: 34,982
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  • Site-wide: 86,106

Genome-wide association study identifies new locus associated with OCD

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  • Site-wide: 36,885
  • In psychiatry and clinical psychology: 188
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  • Site-wide: 9,004
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  • Site-wide: 8,700

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Site-wide: 38,975
  • In genetics: 1,536
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  • Site-wide: 149,838
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  • Site-wide: 111,965

Genetic markers of ADHD-related variations in intracranial volume

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  • Site-wide: 39,331
  • In genetics: 1,561
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  • Site-wide: 112,018
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  • Site-wide: 112,627

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

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  • Site-wide: 39,616
  • In genomics: 3,026
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  • Site-wide: 194,560
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  • Site-wide: 153,096

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

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  • Site-wide: 41,351
  • In allergy and immunology: 144
• Year to date:
  • Site-wide: 7,409
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  • Site-wide: 7,331

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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  • Site-wide: 42,161
  • In genomics: 3,312
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  • Site-wide: 32,247
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  • Site-wide: 56,130

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

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  • Site-wide: 45,649
  • In genetics: 1,926
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  • Site-wide: 4,102
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  • Site-wide: 17,076

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

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  • In developmental biology: 1,120
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  • Site-wide: 19,470

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

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  • Site-wide: 47,708
  • In neuroscience: 6,881
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The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders

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Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

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  • Site-wide: 51,312
  • In genetics: 1,966
• Year to date:
  • Site-wide: 173,283
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  • Site-wide: 139,697

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

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• Download rankings, all-time:
  • Site-wide: 51,408
  • In genetics: 2,004
• Year to date:
  • Site-wide: 161,635
• Since beginning of last month:
  • Site-wide: 148,721

Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

• Downloaded 821 times
• Download rankings, all-time:
  • Site-wide: 51,930
  • In genomics: 3,719
• Year to date:
  • Site-wide: 174,401
• Since beginning of last month:
  • Site-wide: 110,120

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

• Downloaded 799 times
• Download rankings, all-time:
  • Site-wide: 53,989
  • In genomics: 3,759
• Year to date:
  • Site-wide: 199,704
• Since beginning of last month:
  • Site-wide: 200,827

Multi-PGS enhances polygenic prediction: weighting 937 polygenic scores

• Downloaded 792 times
• Download rankings, all-time:
  • Site-wide: 54,668
  • In genetic and genomic medicine: None
• Year to date:
  • Site-wide: 5,010
• Since beginning of last month:
  • Site-wide: 1,591

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

• Downloaded 762 times
• Download rankings, all-time:
  • Site-wide: 57,853
  • In genetics: 2,266
• Year to date:
  • Site-wide: 152,786
• Since beginning of last month:
  • Site-wide: 111,004

Meta-analysis of Scandinavian Schizophrenia Exomes

• Downloaded 749 times
• Download rankings, all-time:
  • Site-wide: 59,336
  • In genetics: 2,364
• Year to date:
  • Site-wide: 80,980
• Since beginning of last month:
  • Site-wide: 61,617

Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies

• Downloaded 746 times
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  • Site-wide: 59,642
  • In genetics: None
• Year to date:
  • Site-wide: 5,536
• Since beginning of last month:
  • Site-wide: 1,607

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

• Downloaded 678 times
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  • Site-wide: 68,472
  • In genetics: 2,562
• Year to date:
  • Site-wide: 208,938
• Since beginning of last month:
  • Site-wide: 201,964

Principled distillation of multidimensional UK Biobank data reveals insights into the correlated human phenome

• Downloaded 655 times
• Download rankings, all-time:
  • Site-wide: 71,842
  • In health informatics: None
• Year to date:
  • Site-wide: 6,904
• Since beginning of last month:
  • Site-wide: 5,167

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

• Downloaded 570 times
• Download rankings, all-time:
  • Site-wide: 85,786
  • In genomics: 5,303
• Year to date:
  • Site-wide: 202,894
• Since beginning of last month:
  • Site-wide: 171,386

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

• Downloaded 525 times
• Download rankings, all-time:
  • Site-wide: 94,716
  • In psychiatry and clinical psychology: 647
• Year to date:
  • Site-wide: 34,087
• Since beginning of last month:
  • Site-wide: 11,013

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

• Downloaded 471 times
• Download rankings, all-time:
  • Site-wide: 106,968
  • In cardiovascular medicine: 310
• Year to date:
  • Site-wide: 21,194
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  • Site-wide: 20,710

Improving fine-mapping by modeling infinitesimal effects

• Downloaded 388 times
• Download rankings, all-time:
  • Site-wide: 128,564
  • In bioinformatics: None
• Year to date:
  • Site-wide: 16,529
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  • Site-wide: 632

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

• Downloaded 379 times
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  • Site-wide: 131,055
  • In cardiovascular medicine: 372
• Year to date:
  • Site-wide: 163,898
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  • Site-wide: 94,860

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

• Downloaded 297 times
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  • Site-wide: 155,523
  • In genomics: 8,032
• Year to date:
  • Site-wide: 25,326
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  • Site-wide: 55,251

Multi-ancestry GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish

• Downloaded 282 times
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  • Site-wide: 160,052
  • In genetic and genomic medicine: 1,301
• Year to date:
  • Site-wide: 27,448
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  • Site-wide: 18,643

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

• Downloaded 253 times
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  • Site-wide: 168,266
  • In genetic and genomic medicine: 1,212
• Year to date:
  • Site-wide: 32,156
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  • Site-wide: 89,871

FAVOR: Functional Annotation of Variants Online Resource and Annotator for Variation across the Human Genome

• Downloaded 240 times
• Download rankings, all-time:
  • Site-wide: 171,891
  • In genetics: None
• Year to date:
  • Site-wide: 34,911
• Since beginning of last month:
  • Site-wide: 13,936