Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 70,616 bioRxiv papers from 308,309 authors.

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Preprints

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

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  • In genomics: 7 out of 4,714
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  • Site-wide: 18,434 out of 70,625

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

• Downloaded 7,417 times
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  • Site-wide: 233 out of 70,625
  • In genetics: 23 out of 3,914
• Year to date:
  • Site-wide: 696 out of 70,625
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  • Site-wide: 430 out of 70,625

Common risk variants identified in autism spectrum disorder

• Downloaded 6,141 times
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  • In genetics: 36 out of 3,914
• Year to date:
  • Site-wide: 5,047 out of 70,625
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  • Site-wide: 3,738 out of 70,625

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,462 times
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  • Site-wide: 581 out of 70,625
  • In genetics: 56 out of 3,914
• Year to date:
  • Site-wide: 35,427 out of 70,625
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  • Site-wide: 58,071 out of 70,625

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

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  • In genetics: 104 out of 3,914
• Year to date:
  • Site-wide: 8,734 out of 70,625
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  • Site-wide: 24,173 out of 70,625

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: 117 out of 3,914
• Year to date:
  • Site-wide: 26,507 out of 70,625
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  • Site-wide: 23,089 out of 70,625

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

• Downloaded 2,382 times
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  • In genetics: 174 out of 3,914
• Year to date:
  • Site-wide: 59,773 out of 70,625
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  • Site-wide: 46,037 out of 70,625

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

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  • In genetics: 201 out of 3,914
• Year to date:
  • Site-wide: 60,607 out of 70,625
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  • Site-wide: 62,468 out of 70,625

Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

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  • In genomics: 540 out of 4,714
• Year to date:
  • Site-wide: 1,188 out of 70,625
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  • Site-wide: 1,967 out of 70,625

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

• Downloaded 1,887 times
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  • Site-wide: 2,827 out of 70,625
  • In genetics: 253 out of 3,914
• Year to date:
  • Site-wide: 49,109 out of 70,625
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  • Site-wide: 32,102 out of 70,625

Genome-wide association study identifies 48 common genetic variants associated with handedness

• Downloaded 1,763 times
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  • Site-wide: 3,192 out of 70,625
  • In genetics: 274 out of 3,914
• Year to date:
  • Site-wide: 2,686 out of 70,625
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  • Site-wide: 2,222 out of 70,625

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

• Downloaded 1,628 times
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  • Site-wide: 3,654 out of 70,625
  • In genetics: 309 out of 3,914
• Year to date:
  • Site-wide: 33,484 out of 70,625
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  • Site-wide: 39,300 out of 70,625

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

• Downloaded 1,624 times
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  • Site-wide: 3,672 out of 70,625
  • In genetics: 312 out of 3,914
• Year to date:
  • Site-wide: 66,468 out of 70,625
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  • Site-wide: 27,940 out of 70,625

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

• Downloaded 1,601 times
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  • Site-wide: 3,765 out of 70,625
  • In genetics: 318 out of 3,914
• Year to date:
  • Site-wide: 6,673 out of 70,625
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  • Site-wide: 6,045 out of 70,625

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 1,595 times
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  • In genetics: 321 out of 3,914
• Year to date:
  • Site-wide: 18,781 out of 70,625
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  • Site-wide: 13,900 out of 70,625

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

• Downloaded 1,480 times
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  • Site-wide: 4,316 out of 70,625
  • In genomics: 780 out of 4,714
• Year to date:
  • Site-wide: 7,710 out of 70,625
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  • Site-wide: 4,692 out of 70,625

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

• Downloaded 1,441 times
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  • Site-wide: 4,522 out of 70,625
  • In genetics: 378 out of 3,914
• Year to date:
  • Site-wide: 48,702 out of 70,625
• Since beginning of last month:
  • Site-wide: 64,607 out of 70,625

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

• Downloaded 1,433 times
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  • Site-wide: 4,561 out of 70,625
  • In genetics: 382 out of 3,914
• Year to date:
  • Site-wide: 6,431 out of 70,625
• Since beginning of last month:
  • Site-wide: 24,340 out of 70,625

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

• Downloaded 1,405 times
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  • Site-wide: 4,715 out of 70,625
  • In genomics: 838 out of 4,714
• Year to date:
  • Site-wide: 25,503 out of 70,625
• Since beginning of last month:
  • Site-wide: 16,937 out of 70,625

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,319 times
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  • Site-wide: 5,220 out of 70,625
  • In genomics: 904 out of 4,714
• Year to date:
  • Site-wide: 62,605 out of 70,625
• Since beginning of last month:
  • Site-wide: 22,893 out of 70,625

Genomic prediction of coronary heart disease

• Downloaded 1,087 times
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  • Site-wide: 7,237 out of 70,625
  • In genomics: 1,152 out of 4,714
• Year to date:
  • Site-wide: 58,377 out of 70,625
• Since beginning of last month:
  • Site-wide: 47,172 out of 70,625

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

• Downloaded 1,022 times
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  • Site-wide: 7,972 out of 70,625
  • In genomics: 1,252 out of 4,714
• Year to date:
  • Site-wide: 16,880 out of 70,625
• Since beginning of last month:
  • Site-wide: 28,420 out of 70,625

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

• Downloaded 965 times
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  • Site-wide: 8,789 out of 70,625
  • In genetics: 662 out of 3,914
• Year to date:
  • Site-wide: 53,839 out of 70,625
• Since beginning of last month:
  • Site-wide: 54,698 out of 70,625

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

• Downloaded 939 times
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  • Site-wide: 9,197 out of 70,625
  • In genetics: 684 out of 3,914
• Year to date:
  • Site-wide: 41,596 out of 70,625
• Since beginning of last month:
  • Site-wide: 26,444 out of 70,625

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

• Downloaded 929 times
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  • Site-wide: 9,349 out of 70,625
  • In genomics: 1,411 out of 4,714
• Year to date:
  • Site-wide: 29,082 out of 70,625
• Since beginning of last month:
  • Site-wide: 49,446 out of 70,625

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

• Downloaded 844 times
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  • Site-wide: 10,888 out of 70,625
  • In genetics: 787 out of 3,914
• Year to date:
  • Site-wide: 59,980 out of 70,625
• Since beginning of last month:
  • Site-wide: 55,025 out of 70,625

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

• Downloaded 784 times
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  • Site-wide: 12,126 out of 70,625
  • In genomics: 1,694 out of 4,714
• Year to date:
  • Site-wide: 30,535 out of 70,625
• Since beginning of last month:
  • Site-wide: 19,290 out of 70,625

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

• Downloaded 726 times
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  • Site-wide: 13,584 out of 70,625
  • In genetics: 931 out of 3,914
• Year to date:
  • Site-wide: 58,872 out of 70,625
• Since beginning of last month:
  • Site-wide: 57,595 out of 70,625

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

• Downloaded 699 times
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  • Site-wide: 14,370 out of 70,625
  • In genetics: 987 out of 3,914
• Year to date:
  • Site-wide: 11,432 out of 70,625
• Since beginning of last month:
  • Site-wide: 8,200 out of 70,625

Insights into protein structural, physicochemical, and functional consequences of missense variants in 1,330 disease-associated human genes

• Downloaded 683 times
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  • Site-wide: 14,807 out of 70,625
  • In genetics: 1,014 out of 3,914
• Year to date:
  • Site-wide: 14,474 out of 70,625
• Since beginning of last month:
  • Site-wide: 5,207 out of 70,625

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

• Downloaded 677 times
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  • Site-wide: 14,998 out of 70,625
  • In genomics: 1,954 out of 4,714
• Year to date:
  • Site-wide: 54,133 out of 70,625
• Since beginning of last month:
  • Site-wide: 62,343 out of 70,625

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 627 times
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  • Site-wide: 16,763 out of 70,625
  • In genetics: 1,136 out of 3,914
• Year to date:
  • Site-wide: 55,141 out of 70,625
• Since beginning of last month:
  • Site-wide: 11,107 out of 70,625

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

• Downloaded 621 times
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  • Site-wide: 16,986 out of 70,625
  • In genomics: 2,107 out of 4,714
• Year to date:
  • Site-wide: 60,776 out of 70,625
• Since beginning of last month:
  • Site-wide: 23,615 out of 70,625

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

• Downloaded 528 times
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  • Site-wide: 21,187 out of 70,625
  • In genetics: 1,418 out of 3,914
• Year to date:
  • Site-wide: 5,967 out of 70,625
• Since beginning of last month:
  • Site-wide: 4,944 out of 70,625

CCR5-del32 is not deleterious in the homozygous state in humans

• Downloaded 479 times
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  • Site-wide: 23,962 out of 70,625
  • In genetics: 1,579 out of 3,914
• Year to date:
  • Site-wide: 6,185 out of 70,625
• Since beginning of last month:
  • Site-wide: 7,318 out of 70,625

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

• Downloaded 413 times
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  • Site-wide: 28,379 out of 70,625
  • In genetics: 1,820 out of 3,914
• Year to date:
  • Site-wide: 54,321 out of 70,625
• Since beginning of last month:
  • Site-wide: 68,195 out of 70,625

Identification of pathogenic variant enriched regions across genes and gene families

• Downloaded 412 times
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  • Site-wide: 28,503 out of 70,625
  • In genetics: 1,824 out of 3,914
• Year to date:
  • Site-wide: 11,657 out of 70,625
• Since beginning of last month:
  • Site-wide: 10,245 out of 70,625

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

• Downloaded 399 times
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  • Site-wide: 29,541 out of 70,625
  • In genomics: 2,996 out of 4,714
• Year to date:
  • Site-wide: 11,973 out of 70,625
• Since beginning of last month:
  • Site-wide: 39,557 out of 70,625

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

• Downloaded 392 times
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  • Site-wide: 30,103 out of 70,625
  • In genomics: 3,033 out of 4,714
• Year to date:
  • Site-wide: 22,133 out of 70,625
• Since beginning of last month:
  • Site-wide: 31,274 out of 70,625

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

• Downloaded 349 times
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  • Site-wide: 33,879 out of 70,625
  • In genetics: 2,120 out of 3,914
• Year to date:
  • Site-wide: 14,726 out of 70,625
• Since beginning of last month:
  • Site-wide: 15,239 out of 70,625

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

• Downloaded 297 times
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  • Site-wide: 39,264 out of 70,625
  • In genetics: 2,390 out of 3,914
• Year to date:
  • Site-wide: 15,417 out of 70,625
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  • Site-wide: 26,858 out of 70,625

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

• Downloaded 241 times
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  • Site-wide: 46,208 out of 70,625
  • In genetics: 2,758 out of 3,914
• Year to date:
  • Site-wide: 38,322 out of 70,625
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  • Site-wide: 42,659 out of 70,625

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

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  • Site-wide: 47,562 out of 70,625
  • In genetics: 2,836 out of 3,914
• Year to date:
  • Site-wide: 8,864 out of 70,625
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  • Site-wide: 631 out of 70,625

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

• Downloaded 198 times
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  • Site-wide: 52,052 out of 70,625
  • In epidemiology: 1,019 out of 1,556
• Year to date:
  • Site-wide: 61,794 out of 70,625
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  • Site-wide: 67,103 out of 70,625

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

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  • Site-wide: 57,516 out of 70,625
  • In genomics: 4,325 out of 4,714
• Year to date:
  • Site-wide: 14,461 out of 70,625
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  • Site-wide: 46,194 out of 70,625