Author: Benjamin M. Neale

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Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

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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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An open resource of structural variation for medical and population genetics

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

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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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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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Genomewide association study identifies 30 loci associated with bipolar disorder

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Regional missense constraint improves variant deleteriousness prediction

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Common risk variants identified in autism spectrum disorder

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

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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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Human demographic history impacts genetic risk prediction across diverse populations

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

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

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Genetic analyses identify widespread sex-differential participation bias

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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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A global view of pleiotropy and genetic architecture in complex traits

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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

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

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Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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

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

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Genome-wide association study identifies 48 common genetic variants associated with handedness

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Comparative genetic architectures of schizophrenia in East Asian and European 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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Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

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Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations

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

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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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

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

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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

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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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

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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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Subtle stratification confounds estimates of heritability from rare variants

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Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

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The genetic architecture of sporadic and recurrent miscarriage

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

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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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

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Schizophrenia risk conferred by protein-coding de novo mutations

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Genetic markers of ADHD-related variations in intracranial volume

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

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

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

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

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

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

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Identification of risk variants and characterization of the polygenic architecture of disruptive behavior disorders in the context of ADHD

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Meta-analysis of Scandinavian Schizophrenia Exomes

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