Author: Ben Neale

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Preprints

Insights from complex trait fine-mapping across diverse populations

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

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

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An Atlas of Genetic Correlations across Human Diseases and Traits

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  • Site-wide: 578
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Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

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An open resource of structural variation for medical and population genetics

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Regional missense constraint improves variant deleteriousness prediction

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  • Site-wide: 1,105
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Common risk variants identified in autism spectrum disorder

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  • Site-wide: 1,192
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Partitioning heritability by functional category using GWAS summary statistics

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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: 1,419
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LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

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New mutations, old statistical challenges

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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: 1,592
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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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

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

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Phenome-wide Heritability Analysis of the UK Biobank

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

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Genetic analyses identify widespread sex-differential participation bias

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Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes

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  • Site-wide: 4,278
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Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

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  • Site-wide: 4,480
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Human demographic history impacts genetic risk prediction across diverse populations

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  • Site-wide: 4,514
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  • Site-wide: 16,825

New synthetic-diploid benchmark for accurate variant calling evaluation

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Haplotypes of common SNPs can explain missing heritability of complex diseases

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A global view of pleiotropy and genetic architecture in complex traits

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  • Site-wide: 4,789
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  • Site-wide: 9,086
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  • Site-wide: 1,483

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: 4,971
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Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

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  • Site-wide: 10,176

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

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  • Site-wide: 5,241
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  • Site-wide: 1,759
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  • Site-wide: 73,602

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

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  • Site-wide: 5,253
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  • Site-wide: 66,611

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

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  • Site-wide: 5,255
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Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.

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  • Site-wide: 5,757
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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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  • Site-wide: 6,065
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

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  • Site-wide: 6,284
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  • Site-wide: 118,425
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  • Site-wide: 107,021

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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  • Site-wide: 6,426
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A cross-disorder dosage sensitivity map of the human genome

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  • Site-wide: 836

Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 6,973
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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Efficient Bayesian mixed model analysis increases association power in large cohorts

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  • Site-wide: 7,196
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

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  • Site-wide: 8,194
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Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

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

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

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

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

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

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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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

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

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

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

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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

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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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  • Site-wide: 89,506

The genetic architecture of sporadic and recurrent miscarriage

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Subtle stratification confounds estimates of heritability from rare variants

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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

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

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

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

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

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  • Site-wide: 39,153

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Site-wide: 108,143

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

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Genetic markers of ADHD-related variations in intracranial volume

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  • Site-wide: 30,510
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Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

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

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  • Site-wide: 4,983
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  • Site-wide: 2,713

Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

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  • Site-wide: 37,548
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  • Site-wide: 53,461
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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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  • Site-wide: 37,494
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Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

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  • Site-wide: 37,643
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  • Site-wide: 130,399
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Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

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RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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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

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  • Site-wide: 46,413
  • In genomics: 3,656
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Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation

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

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  • Site-wide: 50,123
  • In psychiatry and clinical psychology: 181
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  • Site-wide: 6,949
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  • Site-wide: 3,485

Meta-analysis of Scandinavian Schizophrenia Exomes

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  • Site-wide: 58,541
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  • Site-wide: 56,599
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  • Site-wide: 10,033

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

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  • Site-wide: 60,786
  • In genomics: 4,414
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  • Site-wide: 138,553
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  • Site-wide: 39,088

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

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  • In genomics: 5,372
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  • Site-wide: 64,649

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

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  • In genetic and genomic medicine: 436
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  • Site-wide: 17,285
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  • Site-wide: 1,135

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

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  • In developmental biology: 2,544
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  • Site-wide: 481

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

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  • Site-wide: 106,260
  • In cardiovascular medicine: 231
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  • Site-wide: 67,564
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  • Site-wide: 54,411

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

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  • Site-wide: 153,610
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  • Site-wide: 35,741

Analysis of genetic dominance in the UK Biobank

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  • Site-wide: 69,325