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Author: Benjamin M Neale

  • ORCiD: http://orcid.org/0000-0003-1513-6077
  • Most recently observed institution: Program in Medical and Population Genetics, Broad Institute; Analytic and Translational Genetics Unit, Massachusetts General Hospital

Rankings

  • All-time downloads: 287,023 (rank: 259 )
  • Categories:
    • addiction medicine: 1,370 (rank: 65 (tie) )
    • allergy and immunology: 517 (rank: 2,610 (tie) )
    • bioinformatics: 13,288 (rank: 704 )
    • cardiovascular medicine: 546 (rank: 1,717 )
    • developmental biology: 684 (rank: 9,769 (tie) )
    • evolutionary biology: 3,080 (rank: 1,829 (tie) )
    • genetic and genomic medicine: 19,862 (rank: 6 )
    • genetics: 124,729 (rank: 11 )
    • genomics: 102,834 (rank: 110 )
    • neuroscience: 647 (rank: 48,745 (tie) )
    • psychiatry and clinical psychology: 5,420 (rank: 140 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
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    • Site-wide: 470
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An Atlas of Genetic Correlations across Human Diseases and Traits

genomics more details view paper
  • Downloaded 15,174 times
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    • Site-wide: 747
    • In genomics: 32
  • Year to date:
    • Site-wide: 14,233
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    • Site-wide: 21,596

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

genetics more details view paper
  • Downloaded 12,423 times
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    • Site-wide: 974
    • In genetics: 18
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    • Site-wide: 14,616

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,541 times
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    • Site-wide: 1,066
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Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 10,681 times
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    • Site-wide: 1,181
    • In genomics: 77
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    • Site-wide: 1,688
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    • Site-wide: 979

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 9,146 times
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    • Site-wide: 1,417
    • In genetics: 28
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    • Site-wide: 22,635

Partitioning heritability by functional category using GWAS summary statistics

genetics more details view paper
  • Downloaded 8,640 times
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    • Site-wide: 1,535
    • In genetics: 33
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    • Site-wide: 11,511
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    • Site-wide: 11,990

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

genetic and genomic medicine more details view paper
  • Downloaded 8,034 times
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    • Site-wide: 1,690
    • In genetic and genomic medicine: 10
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    • Site-wide: 2,570

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

bioinformatics more details view paper
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    • In bioinformatics: 93
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LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

genomics more details view paper
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    • Site-wide: 1,874
    • In genomics: 128
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New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,293 times
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    • Site-wide: 1,889
    • In genetics: 44
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MTAG: Multi-Trait Analysis of GWAS

genomics more details view paper
  • Downloaded 7,233 times
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    • Site-wide: 1,915
    • In genomics: 132
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    • Site-wide: 18,894
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Current clinical use of polygenic scores will risk exacerbating health disparities

genetics more details view paper
  • Downloaded 7,027 times
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    • Site-wide: 2,001
    • In genetics: 47
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Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

genetic and genomic medicine more details view paper
  • Downloaded 5,751 times
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    • Site-wide: 2,614
    • In genetic and genomic medicine: 15
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    • Site-wide: 967
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Regulatory variants explain much more heritability than coding variants across 11 common diseases

genetics more details view paper
  • Downloaded 4,588 times
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    • Site-wide: 3,564
    • In genetics: 94
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    • Site-wide: 99,424
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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

genetics more details view paper
  • Downloaded 4,463 times
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    • Site-wide: 3,693
    • In genetics: 100
  • Year to date:
    • Site-wide: 99,076
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Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

genomics more details view paper
  • Downloaded 4,291 times
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    • Site-wide: 3,879
    • In genomics: 347
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Phenome-wide Heritability Analysis of the UK Biobank

genetics more details view paper
  • Downloaded 4,141 times
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    • Site-wide: 4,086
    • In genetics: 117
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Genetic analyses identify widespread sex-differential participation bias

genetics more details view paper
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    • Site-wide: 4,459
    • In genetics: 136
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A global view of pleiotropy and genetic architecture in complex traits

genetics more details view paper
  • Downloaded 3,557 times
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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 3,452 times
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    • Site-wide: 5,312
    • In psychiatry and clinical psychology: 21
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    • Site-wide: 12,607
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    • Site-wide: 6,474

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

genetics more details view paper
  • Downloaded 3,329 times
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    • Site-wide: 5,593
    • In genetics: 189
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New synthetic-diploid benchmark for accurate variant calling evaluation

bioinformatics more details view paper
  • Downloaded 3,319 times
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    • Site-wide: 5,619
    • In bioinformatics: 476
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    • Site-wide: 91,954
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    • Site-wide: 104,858

Human demographic history impacts genetic risk prediction across diverse populations

genomics more details view paper
  • Downloaded 3,308 times
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    • Site-wide: 5,658
    • In genomics: 511
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A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 3,290 times
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    • Site-wide: 5,701
    • In genetic and genomic medicine: 29
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Haplotypes of common SNPs can explain missing heritability of complex diseases

genetics more details view paper
  • Downloaded 3,231 times
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    • Site-wide: 5,846
    • In genetics: 198
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Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

genetics more details view paper
  • Downloaded 3,197 times
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    • Site-wide: 5,947
    • In genetics: 211
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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 3,115 times
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    • Site-wide: 6,161
    • In evolutionary biology: 109
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Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

genomics more details view paper
  • Downloaded 3,018 times
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    • Site-wide: 6,471
    • In genomics: 585
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Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

genetics more details view paper
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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

genetics more details view paper
  • Downloaded 2,794 times
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    • In genetics: 265
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Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations

genomics more details view paper
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Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.

genetics more details view paper
  • Downloaded 2,740 times
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    • Site-wide: 7,421
    • In genetics: 274
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A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

genetics more details view paper
  • Downloaded 2,715 times
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    • Site-wide: 7,526
    • In genetics: None
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

genetics more details view paper
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Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

bioinformatics more details view paper
  • Downloaded 2,555 times
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    • Site-wide: 8,251
    • In bioinformatics: 784
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    • Site-wide: 111,115
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Comparative genetic architectures of schizophrenia in East Asian and European populations

genetics more details view paper
  • Downloaded 2,486 times
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    • Site-wide: 8,576
    • In genetics: 330
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    • Site-wide: 76,906

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

genomics more details view paper
  • Downloaded 2,456 times
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    • Site-wide: 8,717
    • In genomics: 817
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    • Site-wide: 63,248

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

genetics more details view paper
  • Downloaded 2,414 times
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Efficient Bayesian mixed model analysis increases association power in large cohorts

genetics more details view paper
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

genetics more details view paper
  • Downloaded 2,193 times
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

genomics more details view paper
  • Downloaded 2,145 times
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    • Site-wide: 10,642
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Insights from complex trait fine-mapping across diverse populations

genetic and genomic medicine more details view paper
  • Downloaded 2,121 times
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    • Site-wide: 10,846
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Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases

genetic and genomic medicine more details view paper
  • Downloaded 2,060 times
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    • Site-wide: 11,357
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Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

genetics more details view paper
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ASD and ADHD have a similar burden of rare protein-truncating variants

genetics more details view paper
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    • Site-wide: 11,786
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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
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    • Site-wide: 12,499
    • In genetics: 470
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Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

genomics more details view paper
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    • Site-wide: 13,538
    • In genomics: 1,249
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

genetics more details view paper
  • Downloaded 1,726 times
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    • Site-wide: 14,733
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Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

genetics more details view paper
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
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    • Site-wide: 17,196
    • In genomics: 1,529
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    • Site-wide: 108,212
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    • Site-wide: 112,183

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

genetic and genomic medicine more details view paper
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    • Site-wide: 17,929
    • In genetic and genomic medicine: 204
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    • Site-wide: 2,046
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    • Site-wide: 1,648

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

genetics more details view paper
  • Downloaded 1,491 times
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    • Site-wide: 18,399
    • In genetics: 741
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    • Site-wide: 125,661
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    • Site-wide: 77,574

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
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    • Site-wide: 18,910
    • In genetics: 795
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    • Site-wide: 49,364

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

addiction medicine more details view paper
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    • Site-wide: 19,511
    • In addiction medicine: 4
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    • Site-wide: 49,174
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Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

genetics more details view paper
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    • Site-wide: 20,959
    • In genetics: 837
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    • Site-wide: 139,882
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    • Site-wide: 173,078

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

genetic and genomic medicine more details view paper
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    • Site-wide: 21,260
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    • Site-wide: 6,197
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    • Site-wide: 7,808

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

genomics more details view paper
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    • Site-wide: 22,314
    • In genomics: 1,878
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    • Site-wide: 154,049
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    • Site-wide: 175,275

Subtle stratification confounds estimates of heritability from rare variants

genetics more details view paper
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    • Site-wide: 23,232
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The genetic architecture of sporadic and recurrent miscarriage

genetics more details view paper
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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
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    • Site-wide: 160,098
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    • Site-wide: 117,268

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

genomics more details view paper
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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

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

genetics more details view paper
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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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    • Site-wide: 12,545
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Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

psychiatry and clinical psychology more details view paper
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    • Site-wide: 1,506
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    • Site-wide: 1,857

Analysis of genetic dominance in the UK Biobank

genetics more details view paper
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    • Site-wide: 2,421
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Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

genetics more details view paper
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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
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Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
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Functional partitioning of local and distal gene expression regulation in multiple human tissues

genomics more details view paper
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Genetic markers of ADHD-related variations in intracranial volume

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Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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

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Genome-wide association study identifies new locus associated with OCD

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Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

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

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

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Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

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

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

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

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

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RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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Meta-analysis of Scandinavian Schizophrenia Exomes

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

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

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

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

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

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

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