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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 53,027 bioRxiv papers from 245,564 authors.

Author: Mark Daly

Rankings

  • All-time downloads: 64,379 (rank: 162 out of 245,564)
  • Categories:
    • bioinformatics: 3,128 (rank: 1,841 (tie) out of 21,734)
    • genetics: 33,410 (rank: 92 out of 23,769)
    • genomics: 27,841 (rank: 181 out of 28,414)

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Preprints

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

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No bioRxiv download data for this paper yet.

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

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New mutations, old statistical challenges

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  • Downloaded 6,701 times
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Partitioning heritability by functional category using GWAS summary statistics

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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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Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

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Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

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Haplotypes of common SNPs can explain missing heritability of complex diseases

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Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

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Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

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    • Site-wide: 32,554 out of 53,027

De novo Variants In Neurodevelopmental Disorders With Epilepsy

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  • Downloaded 1,396 times
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Genetics of 38 blood and urine biomarkers in the UK Biobank

genetics more details view paper
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    • In genetics: 311 out of 3,086
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    • Site-wide: 37 out of 53,027

Population histories of the United States revealed through fine-scale migration and haplotype analysis

genetics more details view paper
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    • In genetics: 331 out of 3,086
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    • Site-wide: 2,644 out of 53,027

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
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    • In genomics: 749 out of 3,782
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    • Site-wide: 22,171 out of 53,027

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

genomics more details view paper
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    • Site-wide: 1,481 out of 53,027

Comparative genetic architectures of schizophrenia in East Asian and European populations

genetics more details view paper
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    • In genetics: 423 out of 3,086
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    • Site-wide: 4,977 out of 53,027

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinsons disease

genomics more details view paper
  • Downloaded 973 times
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    • Site-wide: 3,645 out of 53,027

Subtle stratification confounds estimates of heritability from rare variants

genetics more details view paper
  • Downloaded 897 times
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    • In genetics: 559 out of 3,086
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Genome-wide association study implicates CHRNA2 in cannabis use disorder

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    • In genomics: 1,177 out of 3,782
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    • Site-wide: 10,504 out of 53,027

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

genomics more details view paper
  • Downloaded 754 times
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    • In genomics: 1,348 out of 3,782
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    • Site-wide: 15,484 out of 53,027

The rate of false polymorphisms introduced when imputing genotypes from global imputation panels

genetics more details view paper
  • Downloaded 662 times
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    • In genetics: 789 out of 3,086
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    • Site-wide: 37,000 out of 53,027
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    • Site-wide: 37,866 out of 53,027

The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders

genetics more details view paper
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    • In genetics: 922 out of 3,086
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    • Site-wide: 29,966 out of 53,027

Whole genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

genetics more details view paper
  • Downloaded 373 times
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    • In genetics: 1,457 out of 3,086
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    • Site-wide: 36,995 out of 53,027

A platform for case-control matching enables association studies without genotype sharing

genetics more details view paper
  • Downloaded 231 times
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    • In genetics: 2,079 out of 3,086
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    • Site-wide: 28,840 out of 53,027
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    • Site-wide: 36,178 out of 53,027

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

genetics more details view paper
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    • In genetics: 2,224 out of 3,086
  • Year to date:
    • Site-wide: 9,710 out of 53,027
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    • Site-wide: 8,929 out of 53,027

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

genetics more details view paper
  • Downloaded 194 times
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    • In genetics: 2,255 out of 3,086
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    • Site-wide: 10,250 out of 53,027
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    • Site-wide: 11,892 out of 53,027

Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
  • Downloaded 181 times
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    • In genetics: 2,331 out of 3,086
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    • Site-wide: 1,740 out of 53,027

Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

genetics more details view paper
  • Downloaded 164 times
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    • In genetics: 2,464 out of 3,086
  • Year to date:
    • Site-wide: 12,807 out of 53,027
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    • Site-wide: 2,056 out of 53,027

Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

genetics more details view paper
  • Downloaded 158 times
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    • In genetics: 2,498 out of 3,086
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