Author: Benjamin M Neale

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Preprints

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

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  • Site-wide: 307
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  • Site-wide: 22,538
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  • Site-wide: 17,242

An Atlas of Genetic Correlations across Human Diseases and Traits

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  • Site-wide: 468
  • In genomics: 28
• Year to date:
  • Site-wide: 11,132
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  • Site-wide: 9,893

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

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  • Site-wide: 687
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  • Site-wide: 3,167
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An open resource of structural variation for medical and population genetics

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  • Site-wide: 708
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  • Site-wide: 8,682
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  • Site-wide: 13,237

Regional missense constraint improves variant deleteriousness prediction

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  • Site-wide: 1,052
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  • Site-wide: 3,035
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  • Site-wide: 2,787

Partitioning heritability by functional category using GWAS summary statistics

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  • Site-wide: 1,081
  • In genetics: 32
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  • Site-wide: 12,391
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  • Site-wide: 8,981

Common risk variants identified in autism spectrum disorder

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  • Site-wide: 1,084
  • In genetics: 33
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  • Site-wide: 2,827
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  • Site-wide: 4,056

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 7,275 times
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  • Site-wide: 1,208
  • In bioinformatics: 78
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  • Site-wide: 33,257
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  • Site-wide: 34,221

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

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  • Site-wide: 1,224
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  • Site-wide: 63,607

New mutations, old statistical challenges

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  • Site-wide: 1,234
  • In genetics: 40
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  • Site-wide: 68,848
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  • Site-wide: 65,253

MTAG: Multi-Trait Analysis of GWAS

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  • Site-wide: 1,321
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Current clinical use of polygenic scores will risk exacerbating health disparities

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  • Site-wide: 1,374
  • In genetics: 47
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  • Site-wide: 13,606
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  • Site-wide: 23,260

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

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  • Site-wide: 2,320
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  • Site-wide: 87,909
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  • Site-wide: 77,858

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

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  • Site-wide: 2,422
  • In genetics: 91
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  • Site-wide: 60,272
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  • Site-wide: 88,290

Phenome-wide Heritability Analysis of the UK Biobank

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  • Site-wide: 2,713
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  • Site-wide: 116,980
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  • Site-wide: 99,391

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

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  • Site-wide: 2,991
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  • Site-wide: 9,649
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  • Site-wide: 9,634

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

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  • Site-wide: 3,494
  • In genetic and genomic medicine: 11
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  • Site-wide: 921
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  • Site-wide: 874

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

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  • Site-wide: 3,807
  • In genetics: 161
• Year to date:
  • Site-wide: 56,383
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  • Site-wide: 53,773

Genetic analyses identify widespread sex-differential participation bias

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  • Site-wide: 3,821
  • In genetics: 162
• Year to date:
  • Site-wide: 7,766
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  • Site-wide: 6,473

New synthetic-diploid benchmark for accurate variant calling evaluation

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  • Site-wide: 3,853
  • In bioinformatics: 401
• Year to date:
  • Site-wide: 63,987
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  • Site-wide: 71,703

Human demographic history impacts genetic risk prediction across diverse populations

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  • Site-wide: 3,891
  • In genomics: 445
• Year to date:
  • Site-wide: 43,315
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  • Site-wide: 32,178

Haplotypes of common SNPs can explain missing heritability of complex diseases

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  • Site-wide: 3,957
  • In genetics: 169
• Year to date:
  • Site-wide: 80,076
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  • Site-wide: 70,123

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

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  • Site-wide: 4,246
  • In evolutionary biology: 90
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  • Site-wide: 62,411
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Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

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  • Site-wide: 4,505
  • In genetics: 198
• Year to date:
  • Site-wide: 52,983
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  • Site-wide: 72,268

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

• Downloaded 2,777 times
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  • Site-wide: 4,577
  • In genomics: 511
• Year to date:
  • Site-wide: 22,549
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  • Site-wide: 18,546

A global view of pleiotropy and genetic architecture in complex traits

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  • Site-wide: 4,779
  • In genetics: 214
• Year to date:
  • Site-wide: 14,247
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  • Site-wide: 7,148

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

• Downloaded 2,630 times
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  • Site-wide: 4,953
  • In genetics: 223
• Year to date:
  • Site-wide: 84,236
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  • Site-wide: 91,033

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

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  • Site-wide: 5,188
  • In genetics: 238
• Year to date:
  • Site-wide: 7,943
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  • Site-wide: 16,618

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

• Downloaded 2,508 times
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  • Site-wide: 5,312
  • In genetics: 244
• Year to date:
  • Site-wide: 90,568
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  • Site-wide: 91,912

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

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  • Site-wide: 5,431
  • In genetics: 253
• Year to date:
  • Site-wide: 16,718
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  • Site-wide: 21,447

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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  • Site-wide: 5,571
  • In bioinformatics: 629
• Year to date:
  • Site-wide: 60,678
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  • Site-wide: 49,788

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

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  • Site-wide: 6,061
  • In genetics: 285
• Year to date:
  • Site-wide: 111,284
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  • Site-wide: 99,367

Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 6,078
  • In genetics: 287
• Year to date:
  • Site-wide: 28,503
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  • Site-wide: 25,495

Efficient Bayesian mixed model analysis increases association power in large cohorts

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  • Site-wide: 6,121
  • In genetics: 292
• Year to date:
  • Site-wide: 57,000
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  • Site-wide: 44,124

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

• Downloaded 2,120 times
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  • Site-wide: 6,820
  • In psychiatry and clinical psychology: 23
• Year to date:
  • Site-wide: 1,301
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  • Site-wide: 669

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

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  • Site-wide: 6,943
  • In genomics: 768
• Year to date:
  • Site-wide: 126,325
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  • Site-wide: 108,412

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

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  • Site-wide: 7,306
  • In genetics: 348
• Year to date:
  • Site-wide: 46,820
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  • Site-wide: 63,593

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

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  • Site-wide: 8,124
  • In genetics: 373
• Year to date:
  • Site-wide: 64,194
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  • Site-wide: 53,858

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

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  • Site-wide: 8,757
  • In genomics: 959
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  • Site-wide: 1,958

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

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  • Site-wide: 8,804
  • In genetics: 417
• Year to date:
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  • Site-wide: 65,261

A cross-disorder dosage sensitivity map of the human genome

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  • Site-wide: 9,067
  • In genetic and genomic medicine: 32
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  • Site-wide: 538
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  • Site-wide: 2,854

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

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  • Site-wide: 9,140
  • In genetics: 437
• Year to date:
  • Site-wide: 33,159
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  • Site-wide: 53,564

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Site-wide: 9,539
  • In genomics: 1,048
• Year to date:
  • Site-wide: 56,659
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  • Site-wide: 53,545

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

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  • Site-wide: 9,709
  • In genetics: 464
• Year to date:
  • Site-wide: 95,021
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  • Site-wide: 99,301

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

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  • Site-wide: 11,066
  • In genetics: 533
• Year to date:
  • Site-wide: 120,171
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  • Site-wide: 131,685

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

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  • Site-wide: 11,375
  • In genomics: 1,238
• Year to date:
  • Site-wide: 8,066
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  • Site-wide: 12,956

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

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  • Site-wide: 11,842
  • In genetics: 575
• Year to date:
  • Site-wide: 95,210
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  • Site-wide: 99,431

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 11,850
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  • Site-wide: 71,767
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  • Site-wide: 71,043

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

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  • Site-wide: 12,499
  • In genetics: 614
• Year to date:
  • Site-wide: 53,586
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  • Site-wide: 54,489

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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  • Site-wide: 15,457
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  • Site-wide: 24,936

Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

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  • Site-wide: 15,482
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  • Site-wide: 55,243
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  • Site-wide: 63,497

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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  • Site-wide: 15,805
  • In genomics: 1,630
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  • Site-wide: 66,887
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  • Site-wide: 46,000

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: 16,740
  • In genetics: 821
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  • Site-wide: 87,570
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  • Site-wide: 79,260

Subtle stratification confounds estimates of heritability from rare variants

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  • Site-wide: 16,802
  • In genetics: 826
• Year to date:
  • Site-wide: 72,055
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  • Site-wide: 59,882

The genetic architecture of sporadic and recurrent miscarriage

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  • Site-wide: 17,072
  • In genetics: 837
• Year to date:
  • Site-wide: 40,483
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  • Site-wide: 27,849

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

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  • Site-wide: 17,107
  • In genomics: 1,767
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  • Site-wide: 120,416
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  • Site-wide: 109,012

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: 18,975
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  • Site-wide: 73,564
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  • Site-wide: 110,671

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

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  • Site-wide: 19,078
  • In genetics: 928
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  • Site-wide: 79,662
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  • Site-wide: 70,613

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

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  • Site-wide: 21,977
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  • Site-wide: 93,191
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  • Site-wide: 71,055

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

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  • Site-wide: 26,086
  • In genomics: 2,451
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  • Site-wide: 131,192
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  • Site-wide: 114,810

Human genetic analyses of organelles highlight the nucleus, but not the mitochondrion, in age-related trait heritability

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  • Site-wide: 26,712
  • In genomics: 2,493
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  • Site-wide: 1,334
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  • Site-wide: 1,533

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Site-wide: 26,915
  • In genetics: 1,307
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  • Site-wide: 91,296
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  • Site-wide: 89,170

Genetic markers of ADHD-related variations in intracranial volume

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  • Site-wide: 27,758
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  • Site-wide: 60,187
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  • Site-wide: 53,463

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

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  • Site-wide: 29,903
  • In genetics: 1,455
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  • Site-wide: 68,898
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  • Site-wide: 90,923

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

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  • Site-wide: 31,944
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  • Site-wide: 113,505
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  • Site-wide: 131,752

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

• Downloaded 734 times
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  • Site-wide: 32,375
  • In genetics: 1,568
• Year to date:
  • Site-wide: 81,254
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  • Site-wide: 70,440

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

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  • Site-wide: 32,465
  • In genetics: 1,571
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  • Site-wide: 11,630
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  • Site-wide: 7,284

Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

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  • Site-wide: 34,440
  • In genetics: 1,657
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  • Site-wide: 30,078
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  • Site-wide: 51,886

Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

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  • Site-wide: 36,881
  • In genomics: 3,147
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  • Site-wide: 81,148
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  • Site-wide: 63,718

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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  • Site-wide: 38,934
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  • Site-wide: 129,525
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  • Site-wide: 132,434

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

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  • Site-wide: 40,545
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  • Site-wide: 99,366

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

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  • Site-wide: 53,803
  • In genomics: 4,134
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Meta-analysis of Scandinavian Schizophrenia Exomes

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  • Site-wide: 59,438
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  • Site-wide: 75,730

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

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  • Site-wide: 60,725
  • In genomics: 4,463
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  • Site-wide: 8,566

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

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  • Site-wide: 69,558
  • In genetic and genomic medicine: 232
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  • Site-wide: 4,090
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  • Site-wide: 1,072

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

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  • Site-wide: 105,534
  • In cardiovascular medicine: 220
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