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Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 63,093 bioRxiv papers from 279,869 authors.

Author: Benjamin M Neale

  • Most recently observed institution: Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T.

Rankings

  • All-time downloads: 193,351 (rank: 24 out of 279,869)
  • Categories:
    • bioinformatics: 10,491 (rank: 260 out of 24,475)
    • evolutionary biology: 2,547 (rank: 670 (tie) out of 15,333)
    • genetics: 92,194 (rank: 12 out of 27,860)
    • genomics: 88,119 (rank: 21 out of 32,047)

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Preprints

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

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Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

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

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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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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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New mutations, old statistical challenges

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Partitioning heritability by functional category using GWAS summary statistics

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Genomewide association study identifies 30 loci associated with bipolar disorder

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MTAG: Multi-Trait Analysis of GWAS

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Common risk variants identified in autism spectrum disorder

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Regional missense constraint improves variant deleteriousness prediction

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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

genetics more details view paper
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Phenome-wide Heritability Analysis of the UK Biobank

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

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

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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

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

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

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

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Efficient Bayesian mixed model analysis increases association power in large cohorts

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

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

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

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

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

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Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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

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

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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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Comparative genetic architectures of schizophrenia in East Asian and European populations

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

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

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Largest genome-wide association study for PTSD identifies genetic risk loci in European and African ancestries and implicates novel biological pathways

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

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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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Haplotype sharing provides insights into fine-scale population history and disease in Finland

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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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

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

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

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The genetic architecture of sporadic and recurrent miscarriage

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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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Genetic markers of ADHD-related variations in intracranial volume

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Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

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

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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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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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