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Author: Benjamin M Neale

  • ORCiD: http://orcid.org/0000-0003-1513-6077
  • Most recently observed institution: Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA

Rankings

  • All-time downloads: 239,161 (rank: 189 )
  • Categories:
    • bioinformatics: 12,961 (rank: 545 )
    • cardiovascular medicine: 232 (rank: 2,106 (tie) )
    • evolutionary biology: 2,947 (rank: 1,433 (tie) )
    • genetic and genomic medicine: 6,575 (rank: 114 (tie) )
    • genetics: 116,478 (rank: 12 )
    • genomics: 96,869 (rank: 106 )
    • psychiatry and clinical psychology: 3,099 (rank: 232 (tie) )

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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An Atlas of Genetic Correlations across Human Diseases and Traits

genomics more details view paper
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Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

genetics more details view paper
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An open resource of structural variation for medical and population genetics

genomics more details view paper
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Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
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Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 8,302 times
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    • Site-wide: 1,097
    • In genetics: 31
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Partitioning heritability by functional category using GWAS summary statistics

genetics more details view paper
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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

bioinformatics more details view paper
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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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New mutations, old statistical challenges

genetics more details view paper
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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

genetics more details view paper
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    • Site-wide: 1,463
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Regulatory variants explain much more heritability than coding variants across 11 common diseases

genetics more details view paper
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    • Site-wide: 2,522
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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

genetics more details view paper
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    • Site-wide: 2,612
    • In genetics: 93
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Phenome-wide Heritability Analysis of the UK Biobank

genetics more details view paper
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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

genetic and genomic medicine more details view paper
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Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

genomics more details view paper
  • Downloaded 3,874 times
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Genetic analyses identify widespread sex-differential participation bias

genetics more details view paper
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Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

genetics more details view paper
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New synthetic-diploid benchmark for accurate variant calling evaluation

bioinformatics more details view paper
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Human demographic history impacts genetic risk prediction across diverse populations

genomics more details view paper
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Haplotypes of common SNPs can explain missing heritability of complex diseases

genetics more details view paper
  • Downloaded 3,104 times
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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
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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
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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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A global view of pleiotropy and genetic architecture in complex traits

genetics more details view paper
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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 2,694 times
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    • In genetics: 230
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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 2,686 times
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    • Site-wide: 1,259
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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
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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

genetics more details view paper
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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 2,467 times
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    • In bioinformatics: 651
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Comparative genetic architectures of schizophrenia in East Asian and European populations

genetics more details view paper
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

genetics more details view paper
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Efficient Bayesian mixed model analysis increases association power in large cohorts

genetics more details view paper
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

genomics 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
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A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
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Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

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

genetics more details view paper
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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
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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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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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A genetic investigation of sex bias in the prevalence of attention deficit hyperactivity disorder

genetics more details view paper
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    • Site-wide: 13,323
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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
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Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

genetics more details view paper
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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

genomics more details view paper
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Subtle stratification confounds estimates of heritability from rare variants

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

genomics more details view paper
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The genetic architecture of sporadic and recurrent miscarriage

genetics more details view paper
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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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Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

genetics more details view paper
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Human genetic analyses of organelles highlight the nucleus, but not the mitochondrion, in age-related trait heritability

genomics 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

genetics more details view paper
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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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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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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

genomics more details view paper
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Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

genetics more details view paper
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Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

genetics more details view paper
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Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

genomics more details view paper
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RICOPILI: Rapid Imputation for COnsortias PIpeLIne

genetics more details view paper
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Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation

genetics more details view paper
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Exome sequencing in bipolar disorder reveals shared risk gene AKAP11 with schizophrenia

genetic and genomic medicine 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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