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: 112,524

An Atlas of Genetic Correlations across Human Diseases and Traits

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  • Site-wide: 516
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  • Site-wide: 13,978
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Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

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  • Site-wide: 723
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An open resource of structural variation for medical and population genetics

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  • Site-wide: 758
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  • Site-wide: 9,342
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  • Site-wide: 8,318

Regional missense constraint improves variant deleteriousness prediction

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  • Site-wide: 1,058
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  • Site-wide: 2,390
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  • Site-wide: 2,864

Common risk variants identified in autism spectrum disorder

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  • Site-wide: 1,097
  • In genetics: 31
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  • Site-wide: 2,238
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  • Site-wide: 1,474

Partitioning heritability by functional category using GWAS summary statistics

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  • Site-wide: 1,154
  • In genetics: 33
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  • Site-wide: 12,467
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  • Site-wide: 23,133

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

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  • Site-wide: 1,288
  • In bioinformatics: 80
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  • Site-wide: 32,211
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LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

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  • Site-wide: 1,318
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New mutations, old statistical challenges

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  • Site-wide: 1,323
  • In genetics: 43
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MTAG: Multi-Trait Analysis of GWAS

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Current clinical use of polygenic scores will risk exacerbating health disparities

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  • Site-wide: 1,463
  • In genetics: 47
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  • Site-wide: 11,452
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  • Site-wide: 9,331

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

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  • Site-wide: 2,522
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  • Site-wide: 89,395
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  • Site-wide: 63,684

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

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  • Site-wide: 2,612
  • In genetics: 93
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  • Site-wide: 66,170
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Phenome-wide Heritability Analysis of the UK Biobank

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  • Site-wide: 2,938
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  • Site-wide: 124,250

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

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  • Site-wide: 2,960
  • In genetic and genomic medicine: 12
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  • Site-wide: 1,092

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

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  • Site-wide: 3,100
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• Year to date:
  • Site-wide: 9,873
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  • Site-wide: 7,142

Genetic analyses identify widespread sex-differential participation bias

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  • Site-wide: 3,686
  • In genetics: 142
• Year to date:
  • Site-wide: 5,189
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  • Site-wide: 4,513

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

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  • Site-wide: 4,084
  • In genetics: 165
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  • Site-wide: 66,214
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  • Site-wide: 63,396

New synthetic-diploid benchmark for accurate variant calling evaluation

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  • Site-wide: 4,154
  • In bioinformatics: 416
• Year to date:
  • Site-wide: 69,935
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  • Site-wide: 98,130

Human demographic history impacts genetic risk prediction across diverse populations

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  • Site-wide: 4,168
  • In genomics: 457
• Year to date:
  • Site-wide: 43,284
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  • Site-wide: 32,473

Haplotypes of common SNPs can explain missing heritability of complex diseases

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  • Site-wide: 4,251
  • In genetics: 173
• Year to date:
  • Site-wide: 75,959
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  • Site-wide: 63,342

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: 4,560
  • In evolutionary biology: 94
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  • Site-wide: 75,975

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

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  • Site-wide: 4,812
  • In genomics: 513
• Year to date:
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  • Site-wide: 24,502

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

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  • Site-wide: 4,821
  • In genetics: 205
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  • Site-wide: 55,825
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  • Site-wide: 37,210

A global view of pleiotropy and genetic architecture in complex traits

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  • Site-wide: 4,851
  • In genetics: 207
• Year to date:
  • Site-wide: 12,466
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  • Site-wide: 9,079

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

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  • Site-wide: 5,206
  • In genetics: 230
• Year to date:
  • Site-wide: 7,887
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  • Site-wide: 8,297

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

• Downloaded 2,686 times
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  • Site-wide: 5,229
  • In psychiatry and clinical psychology: 20
• Year to date:
  • Site-wide: 1,259
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  • Site-wide: 888

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

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  • Site-wide: 5,310
  • In genetics: 237
• Year to date:
  • Site-wide: 81,445
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  • Site-wide: 43,028

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

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  • Site-wide: 5,673
  • In genetics: 250
• Year to date:
  • Site-wide: 19,204
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  • Site-wide: 28,855

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

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  • Site-wide: 5,750
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• Year to date:
  • Site-wide: 93,547
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  • Site-wide: 52,247

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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  • Site-wide: 5,959
  • In bioinformatics: 651
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  • Site-wide: 61,211
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  • Site-wide: 52,550

Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 6,436
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• Year to date:
  • Site-wide: 33,453
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  • Site-wide: 47,158

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

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  • Site-wide: 6,513
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• Year to date:
  • Site-wide: 103,181
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  • Site-wide: 78,790

Efficient Bayesian mixed model analysis increases association power in large cohorts

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  • Site-wide: 6,584
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• Year to date:
  • Site-wide: 71,397
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  • Site-wide: 51,363

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

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  • Site-wide: 7,505
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  • Site-wide: 126,628
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  • Site-wide: 112,758

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

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  • Site-wide: 7,767
  • In genetics: 353
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  • Site-wide: 49,664
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  • Site-wide: 52,777

A cross-disorder dosage sensitivity map of the human genome

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  • Site-wide: 7,902
  • In genetic and genomic medicine: 30
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  • Site-wide: 803
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  • Site-wide: 3,009

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

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  • Site-wide: 8,447
  • In genomics: 893
• Year to date:
  • Site-wide: 3,963
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  • Site-wide: 8,118

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

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  • Site-wide: 8,700
  • In genetics: 389
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  • Site-wide: 74,687
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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: 9,318
  • In genetics: 425
• Year to date:
  • Site-wide: 53,272
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ASD and ADHD have a similar burden of rare protein-truncating variants

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  • Site-wide: 9,638
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• Year to date:
  • Site-wide: 40,241
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Site-wide: 10,182
  • In genomics: 1,077
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  • Site-wide: 68,975
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  • Site-wide: 103,511

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

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  • Site-wide: 10,463
  • In genetics: 483
• Year to date:
  • Site-wide: 117,686
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  • Site-wide: 122,709

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

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  • Site-wide: 11,316
  • In genomics: 1,203
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  • Site-wide: 15,095

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

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  • Site-wide: 11,851
  • In genetics: 556
• Year to date:
  • Site-wide: 122,561
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  • Site-wide: 98,507

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

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  • Site-wide: 12,685
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 12,729
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  • Site-wide: 87,443
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  • Site-wide: 127,933

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

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  • Site-wide: 13,323
  • In genetics: 634
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  • Site-wide: 64,536
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  • Site-wide: 62,864

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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  • Site-wide: 15,927
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  • Site-wide: 27,932

Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

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  • Site-wide: 16,128
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  • Site-wide: 55,837
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  • Site-wide: 55,791

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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  • Site-wide: 16,883
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  • Site-wide: 83,196
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  • Site-wide: 98,662

Subtle stratification confounds estimates of heritability from rare variants

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  • Site-wide: 17,696
  • In genetics: 845
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  • Site-wide: 74,770
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  • Site-wide: 52,163

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: 17,763
  • In genetics: 851
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  • Site-wide: 94,736
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  • Site-wide: 78,741

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

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  • Site-wide: 17,834
  • In genomics: 1,801
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  • Site-wide: 1,589
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  • Site-wide: 757

The genetic architecture of sporadic and recurrent miscarriage

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  • Site-wide: 17,819
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  • Site-wide: 48,894
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  • Site-wide: 46,925

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

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  • Site-wide: 18,297
  • In genomics: 1,838
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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: 20,019
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  • Site-wide: 62,682

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

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  • Site-wide: 20,220
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  • Site-wide: 86,891
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  • Site-wide: 112,296

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

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  • Site-wide: 23,611
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  • Site-wide: 112,355
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  • Site-wide: 112,048

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

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  • Site-wide: 24,532
  • In genomics: 2,331
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  • Site-wide: 21,810

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Site-wide: 28,114
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  • Site-wide: 84,999
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  • Site-wide: 56,329

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

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  • Site-wide: 28,134
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  • Site-wide: 141,367
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  • Site-wide: 127,579

Genetic markers of ADHD-related variations in intracranial volume

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  • Site-wide: 63,420
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  • Site-wide: 77,351

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

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  • Site-wide: 31,812
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  • Site-wide: 88,661

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

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  • Site-wide: 33,414
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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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  • Site-wide: 34,413
  • In genomics: 2,963
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  • Site-wide: 133,831
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  • Site-wide: 135,453

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

• Downloaded 739 times
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  • Site-wide: 34,612
  • In genetics: 1,636
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  • Site-wide: 123,681

Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

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  • Site-wide: 35,672
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  • Site-wide: 41,584
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  • Site-wide: 49,865

Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

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  • Site-wide: 38,680
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  • Site-wide: 62,085

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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  • Site-wide: 41,388
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Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation

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

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  • Site-wide: 50,318
  • In genetic and genomic medicine: 179
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  • Site-wide: 6,067

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: 54,265
  • In genomics: 4,127
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A method to exploit the structure of genetic ancestry space to enhance case-control studies

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  • Site-wide: 56,846
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Meta-analysis of Scandinavian Schizophrenia Exomes

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  • Site-wide: 60,929
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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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  • Site-wide: 69,296
  • In psychiatry and clinical psychology: 228
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  • Site-wide: 7,246
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  • Site-wide: 768

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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  • In genomics: 5,983
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  • Site-wide: 1,409

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

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  • Site-wide: 106,418
  • In cardiovascular medicine: 215
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