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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 45,813 bioRxiv papers from 206,278 authors.

Author: Benjamin M Neale

  • Most recently observed institution: Broad Institute, Massachusetts General Hospital, Harvard Medical School

Rankings

  • All-time downloads: 105,367 (rank: 42 out of 206,278)
  • Categories:
    • bioinformatics: 2,967 (rank: 1,535 out of 18,909)
    • evolutionary biology: 2,214 (rank: 666 (tie) out of 12,073)
    • genetics: 62,879 (rank: 30 out of 21,172)
    • genomics: 37,307 (rank: 108 out of 24,480)

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Preprints

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

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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The genetic architecture of sporadic and recurrent miscarriage

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An Atlas of Genetic Correlations across Human Diseases and Traits

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

genetics 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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Partitioning heritability by functional category using GWAS summary statistics

genetics more details view paper
  • Downloaded 6,097 times
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Common risk variants identified in autism spectrum disorder

genetics more details view paper
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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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Regulatory variants explain much more heritability than coding variants across 11 common diseases

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

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Phenome-wide Heritability Analysis of the UK Biobank

genetics more details view paper
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Current clinical use of polygenic scores will risk exacerbating health disparities

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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    • In genetics: 83 out of 2,745
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Haplotypes of common SNPs can explain missing heritability of complex diseases

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

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

genetics more details view paper
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    • In genetics: 144 out of 2,745
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    • Site-wide: 34,083 out of 45,813

Efficient Bayesian mixed model analysis increases association power in large cohorts

genetics more details view paper
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    • In genetics: 152 out of 2,745
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A protein truncating R179X variant in RNF186 confers protection against ulcerative colitis

genetics more details view paper
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    • In genetics: 157 out of 2,745
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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

bioinformatics more details view paper
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    • In bioinformatics: 324 out of 4,918
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    • Site-wide: 8,885 out of 45,813

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

genomics more details view paper
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    • In genomics: 376 out of 3,397
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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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    • In genetics: 238 out of 2,745
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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

bioinformatics more details view paper
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    • In bioinformatics: 898 out of 4,918
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Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

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

genetics more details view paper
  • Downloaded 873 times
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    • In genetics: 485 out of 2,745
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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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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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Haplotype sharing provides insights into fine-scale population history and disease in Finland

genetics more details view paper
  • Downloaded 851 times
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    • In genetics: 498 out of 2,745
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Subtle stratification confounds estimates of heritability from rare variants

genetics 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
  • Downloaded 807 times
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Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

genetics more details view paper
  • Downloaded 725 times
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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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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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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

genomics more details view paper
  • Downloaded 567 times
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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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Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

genomics more details view paper
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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

genetics more details view paper
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  • Year to date:
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    • Site-wide: 3,124 out of 45,813

Genetic markers of ADHD-related variations in intracranial volume

genetics more details view paper
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A method to exploit the structure of genetic ancestry space to enhance case-control studies

genomics more details view paper
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Common variant burden contributes significantly to the familial aggregation of migraine in 1,589 families

genetics more details view paper
  • Downloaded 305 times
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