Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 52,871 bioRxiv papers from 244,990 authors.

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Preprints

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

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Common risk variants identified in autism spectrum disorder

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  • In genetics: 29 out of 3,083
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  • Site-wide: 512 out of 52,871
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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

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  • In genetics: 40 out of 3,083
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  • Site-wide: 144 out of 52,871

GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence

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  • In genetics: 46 out of 3,083
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Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

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  • In genetics: 95 out of 3,083
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Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

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  • In genetics: 101 out of 3,083
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  • Site-wide: 9,902 out of 52,871

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

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  • In genetics: 142 out of 3,083
• Year to date:
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  • Site-wide: 37,003 out of 52,871

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

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  • In genetics: 160 out of 3,083
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A protein truncating R179X variant in RNF186 confers protection against ulcerative colitis

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  • In genetics: 184 out of 3,083
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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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  • In genetics: 215 out of 3,083
• Year to date:
  • Site-wide: 25,975 out of 52,871
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  • Site-wide: 26,633 out of 52,871

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

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  • In genomics: 494 out of 3,774
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  • Site-wide: 30,080 out of 52,871
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  • Site-wide: 39,569 out of 52,871

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

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  • In genetics: 256 out of 3,083
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  • Site-wide: 32,039 out of 52,871

Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

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  • In genetics: 281 out of 3,083
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  • Site-wide: 3,927 out of 52,871

De novo Variants In Neurodevelopmental Disorders With Epilepsy

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  • In genetics: 310 out of 3,083
• Year to date:
  • Site-wide: 11,589 out of 52,871
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  • Site-wide: 11,314 out of 52,871

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

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  • In genetics: 315 out of 3,083
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  • Site-wide: 30,734 out of 52,871

Gene family information facilitates variant interpretation and identification of disease-associated genes

• Downloaded 1,290 times
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  • In genetics: 339 out of 3,083
• Year to date:
  • Site-wide: 17,584 out of 52,871
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  • Site-wide: 24,872 out of 52,871

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • In genomics: 748 out of 3,774
• Year to date:
  • Site-wide: 22,794 out of 52,871
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  • Site-wide: 21,290 out of 52,871

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • In genomics: 758 out of 3,774
• Year to date:
  • Site-wide: 13,041 out of 52,871
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  • Site-wide: 13,436 out of 52,871

Genome-wide association study identifies 17 new loci influencing concentrations of circulating cytokines and growth factors

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  • In genomics: 916 out of 3,774
• Year to date:
  • Site-wide: 39,994 out of 52,871
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  • Site-wide: 44,831 out of 52,871

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

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  • In genomics: 917 out of 3,774
• Year to date:
  • Site-wide: 36,718 out of 52,871
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  • Site-wide: 41,617 out of 52,871

Genomic prediction of coronary heart disease

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  • In genomics: 931 out of 3,774
• Year to date:
  • Site-wide: 44,960 out of 52,871
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  • Site-wide: 43,014 out of 52,871

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

• Downloaded 1,029 times
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  • Site-wide: 5,483 out of 52,871
  • In genetics: 464 out of 3,083
• Year to date:
  • Site-wide: 609 out of 52,871
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  • Site-wide: 3,600 out of 52,871

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

• Downloaded 973 times
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  • Site-wide: 6,000 out of 52,871
  • In genomics: 1,005 out of 3,774
• Year to date:
  • Site-wide: 690 out of 52,871
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  • Site-wide: 3,404 out of 52,871

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

• Downloaded 903 times
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  • Site-wide: 6,750 out of 52,871
  • In genetics: 554 out of 3,083
• Year to date:
  • Site-wide: 28,528 out of 52,871
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  • Site-wide: 32,560 out of 52,871

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

• Downloaded 864 times
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  • In genomics: 1,149 out of 3,774
• Year to date:
  • Site-wide: 33,366 out of 52,871
• Since beginning of last month:
  • Site-wide: 22,327 out of 52,871

Exome sequencing identifies high-impact trait-associated alleles enriched in Finns

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  • In genomics: 1,195 out of 3,774
• Year to date:
  • Site-wide: 2,923 out of 52,871
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  • Site-wide: 8,195 out of 52,871

Rare schizophrenia risk variants are enriched in genes shared with neurodevelopmental disorders

• Downloaded 788 times
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  • In genetics: 647 out of 3,083
• Year to date:
  • Site-wide: 36,230 out of 52,871
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  • Site-wide: 39,633 out of 52,871

Geographic variation and bias in polygenic scores of complex diseases and traits in Finland

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  • In genetics: 684 out of 3,083
• Year to date:
  • Site-wide: 3,162 out of 52,871
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  • Site-wide: 4,504 out of 52,871

Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

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  • Site-wide: 10,403 out of 52,871
  • In genetics: 766 out of 3,083
• Year to date:
  • Site-wide: 4,306 out of 52,871
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  • Site-wide: 4,824 out of 52,871

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

• Downloaded 662 times
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  • In genetics: 789 out of 3,083
• Year to date:
  • Site-wide: 36,533 out of 52,871
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  • Site-wide: 37,321 out of 52,871

An interaction map of circulating metabolites, immune gene networks and their genetic regulation

• Downloaded 637 times
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  • In genomics: 1,583 out of 3,774
• Year to date:
  • Site-wide: 47,822 out of 52,871
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  • Site-wide: 47,267 out of 52,871

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

• Downloaded 555 times
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  • In genomics: 1,792 out of 3,774
• Year to date:
  • Site-wide: 31,907 out of 52,871
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  • Site-wide: 26,231 out of 52,871

Large-Scale cognitive GWAS Meta-analysis Reveals Tissue-Specific Neural Expression and Potential Nootopic Drug Targets

• Downloaded 526 times
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  • In genomics: 1,881 out of 3,774
• Year to date:
  • Site-wide: 46,546 out of 52,871
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  • Site-wide: 46,104 out of 52,871

Multivariate genome-wide association analysis of a cytokine network reveals variants with widespread immune, haematological and cardiometabolic pleiotropy

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  • In genomics: 1,900 out of 3,774
• Year to date:
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  • Site-wide: 8,278 out of 52,871

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

• Downloaded 437 times
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  • In genetics: 1,268 out of 3,083
• Year to date:
  • Site-wide: 34,024 out of 52,871
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  • Site-wide: 32,234 out of 52,871

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways

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  • In genetics: 1,288 out of 3,083
• Year to date:
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  • Site-wide: 12,658 out of 52,871

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

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  • Site-wide: 35,539 out of 52,871

Common variant burden contributes significantly to the familial aggregation of migraine in 1,589 families

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  • In genetics: 1,610 out of 3,083
• Year to date:
  • Site-wide: 42,198 out of 52,871
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  • Site-wide: 39,806 out of 52,871

Advantages of genotype imputation with ethnically matched reference panel for rare variant association analyses

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  • In genomics: 2,790 out of 3,774
• Year to date:
  • Site-wide: 6,067 out of 52,871
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  • Site-wide: 9,768 out of 52,871

Identification of pathogenic variant enriched regions across genes and gene families

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  • In genetics: 2,330 out of 3,083
• Year to date:
  • Site-wide: 11,109 out of 52,871
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  • Site-wide: 1,621 out of 52,871

Polygenic risk score of alcohol consumption predicts alcohol-related morbidity and all-cause mortality

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  • Site-wide: 1,837 out of 52,871

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

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  • Site-wide: 1,931 out of 52,871

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

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  • Site-wide: 26,707 out of 52,871

Coronary artery disease risk and lipidomic profiles are similar in familial and population-ascertained hyperlipidemias

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  • Site-wide: 40,538 out of 52,871
  • In epidemiology: 791 out of 1,543
• Year to date:
  • Site-wide: 38,254 out of 52,871
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  • Site-wide: 36,682 out of 52,871