Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,725 bioRxiv papers from 278,303 authors.

Downloads per author, site-wide

Preprints

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

No bioRxiv download data for this paper yet.

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

• Downloaded 21,430 times
• Download rankings, all-time:
  • Site-wide: 24 out of 62,725
  • In genomics: 6 out of 4,314
• Year to date:
  • Site-wide: 3,407 out of 62,725
• Since beginning of last month:
  • Site-wide: 5,047 out of 62,725

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

• Downloaded 6,234 times
• Download rankings, all-time:
  • Site-wide: 266 out of 62,725
  • In genetics: 29 out of 3,562
• Year to date:
  • Site-wide: 107 out of 62,725
• Since beginning of last month:
  • Site-wide: 170 out of 62,725

Common risk variants identified in autism spectrum disorder

• Downloaded 5,933 times
• Download rankings, all-time:
  • Site-wide: 303 out of 62,725
  • In genetics: 37 out of 3,562
• Year to date:
  • Site-wide: 780 out of 62,725
• Since beginning of last month:
  • Site-wide: 2,939 out of 62,725

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

• Downloaded 4,529 times
• Download rankings, all-time:
  • Site-wide: 485 out of 62,725
  • In genetics: 51 out of 3,562
• Year to date:
  • Site-wide: 6,037 out of 62,725
• Since beginning of last month:
  • Site-wide: 8,267 out of 62,725

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,434 times
• Download rankings, all-time:
  • Site-wide: 505 out of 62,725
  • In genetics: 54 out of 3,562
• Year to date:
  • Site-wide: 38,557 out of 62,725
• Since beginning of last month:
  • Site-wide: 36,497 out of 62,725

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

• Downloaded 3,028 times
• Download rankings, all-time:
  • Site-wide: 1,052 out of 62,725
  • In genetics: 96 out of 3,562
• Year to date:
  • Site-wide: 7,284 out of 62,725
• Since beginning of last month:
  • Site-wide: 13,137 out of 62,725

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

• Downloaded 2,900 times
• Download rankings, all-time:
  • Site-wide: 1,155 out of 62,725
  • In genetics: 107 out of 3,562
• Year to date:
  • Site-wide: 14,447 out of 62,725
• Since beginning of last month:
  • Site-wide: 36,067 out of 62,725

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

• Downloaded 2,358 times
• Download rankings, all-time:
  • Site-wide: 1,666 out of 62,725
  • In genetics: 161 out of 3,562
• Year to date:
  • Site-wide: 38,441 out of 62,725
• Since beginning of last month:
  • Site-wide: 54,768 out of 62,725

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

• Downloaded 2,180 times
• Download rankings, all-time:
  • Site-wide: 1,905 out of 62,725
  • In genetics: 184 out of 3,562
• Year to date:
  • Site-wide: 44,724 out of 62,725
• Since beginning of last month:
  • Site-wide: 55,148 out of 62,725

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

• Downloaded 1,854 times
• Download rankings, all-time:
  • Site-wide: 2,544 out of 62,725
  • In genetics: 236 out of 3,562
• Year to date:
  • Site-wide: 27,286 out of 62,725
• Since beginning of last month:
  • Site-wide: 20,643 out of 62,725

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

• Downloaded 1,601 times
• Download rankings, all-time:
  • Site-wide: 3,252 out of 62,725
  • In genetics: 286 out of 3,562
• Year to date:
  • Site-wide: 45,804 out of 62,725
• Since beginning of last month:
  • Site-wide: 49,179 out of 62,725

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

• Downloaded 1,575 times
• Download rankings, all-time:
  • Site-wide: 3,337 out of 62,725
  • In genetics: 295 out of 3,562
• Year to date:
  • Site-wide: 4,076 out of 62,725
• Since beginning of last month:
  • Site-wide: 26,841 out of 62,725

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

• Downloaded 1,530 times
• Download rankings, all-time:
  • Site-wide: 3,514 out of 62,725
  • In genomics: 664 out of 4,314
• Year to date:
  • Site-wide: 677 out of 62,725
• Since beginning of last month:
  • Site-wide: 886 out of 62,725

De novo Variants In Neurodevelopmental Disorders With Epilepsy

• Downloaded 1,512 times
• Download rankings, all-time:
  • Site-wide: 3,581 out of 62,725
  • In genetics: 313 out of 3,562
• Year to date:
  • Site-wide: 11,826 out of 62,725
• Since beginning of last month:
  • Site-wide: 17,085 out of 62,725

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

• Downloaded 1,422 times
• Download rankings, all-time:
  • Site-wide: 3,983 out of 62,725
  • In genetics: 347 out of 3,562
• Year to date:
  • Site-wide: 37,123 out of 62,725
• Since beginning of last month:
  • Site-wide: 55,420 out of 62,725

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

• Downloaded 1,414 times
• Download rankings, all-time:
  • Site-wide: 4,023 out of 62,725
  • In genetics: 349 out of 3,562
• Year to date:
  • Site-wide: 776 out of 62,725
• Since beginning of last month:
  • Site-wide: 6,679 out of 62,725

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

• Downloaded 1,362 times
• Download rankings, all-time:
  • Site-wide: 4,265 out of 62,725
  • In genetics: 360 out of 3,562
• Year to date:
  • Site-wide: 20,205 out of 62,725
• Since beginning of last month:
  • Site-wide: 21,804 out of 62,725

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

• Downloaded 1,317 times
• Download rankings, all-time:
  • Site-wide: 4,501 out of 62,725
  • In genomics: 805 out of 4,314
• Year to date:
  • Site-wide: 23,378 out of 62,725
• Since beginning of last month:
  • Site-wide: 22,494 out of 62,725

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,276 times
• Download rankings, all-time:
  • Site-wide: 4,735 out of 62,725
  • In genomics: 837 out of 4,314
• Year to date:
  • Site-wide: 19,219 out of 62,725
• Since beginning of last month:
  • Site-wide: 36,197 out of 62,725

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

• Downloaded 1,245 times
• Download rankings, all-time:
  • Site-wide: 4,926 out of 62,725
  • In genomics: 855 out of 4,314
• Year to date:
  • Site-wide: 997 out of 62,725
• Since beginning of last month:
  • Site-wide: 2,446 out of 62,725

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

• Downloaded 1,098 times
• Download rankings, all-time:
  • Site-wide: 6,078 out of 62,725
  • In genomics: 1,008 out of 4,314
• Year to date:
  • Site-wide: 40,020 out of 62,725
• Since beginning of last month:
  • Site-wide: 36,297 out of 62,725

Genomic prediction of coronary heart disease

• Downloaded 1,061 times
• Download rankings, all-time:
  • Site-wide: 6,441 out of 62,725
  • In genomics: 1,059 out of 4,314
• Year to date:
  • Site-wide: 55,043 out of 62,725
• Since beginning of last month:
  • Site-wide: 57,113 out of 62,725

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

• Downloaded 958 times
• Download rankings, all-time:
  • Site-wide: 7,554 out of 62,725
  • In genomics: 1,198 out of 4,314
• Year to date:
  • Site-wide: 4,071 out of 62,725
• Since beginning of last month:
  • Site-wide: 20,152 out of 62,725

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

• Downloaded 936 times
• Download rankings, all-time:
  • Site-wide: 7,849 out of 62,725
  • In genetics: 612 out of 3,562
• Year to date:
  • Site-wide: 38,024 out of 62,725
• Since beginning of last month:
  • Site-wide: 49,447 out of 62,725

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

• Downloaded 900 times
• Download rankings, all-time:
  • Site-wide: 8,390 out of 62,725
  • In genomics: 1,292 out of 4,314
• Year to date:
  • Site-wide: 41,788 out of 62,725
• Since beginning of last month:
  • Site-wide: 52,269 out of 62,725

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

• Downloaded 887 times
• Download rankings, all-time:
  • Site-wide: 8,570 out of 62,725
  • In genetics: 639 out of 3,562
• Year to date:
  • Site-wide: 15,763 out of 62,725
• Since beginning of last month:
  • Site-wide: 29,014 out of 62,725

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

• Downloaded 865 times
• Download rankings, all-time:
  • Site-wide: 8,896 out of 62,725
  • In genetics: 666 out of 3,562
• Year to date:
  • Site-wide: 4,441 out of 62,725
• Since beginning of last month:
  • Site-wide: 4,482 out of 62,725

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

• Downloaded 829 times
• Download rankings, all-time:
  • Site-wide: 9,519 out of 62,725
  • In genetics: 705 out of 3,562
• Year to date:
  • Site-wide: 4,929 out of 62,725
• Since beginning of last month:
  • Site-wide: 18,092 out of 62,725

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

• Downloaded 818 times
• Download rankings, all-time:
  • Site-wide: 9,697 out of 62,725
  • In genetics: 715 out of 3,562
• Year to date:
  • Site-wide: 45,957 out of 62,725
• Since beginning of last month:
  • Site-wide: 50,588 out of 62,725

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

• Downloaded 700 times
• Download rankings, all-time:
  • Site-wide: 12,174 out of 62,725
  • In genetics: 855 out of 3,562
• Year to date:
  • Site-wide: 43,755 out of 62,725
• Since beginning of last month:
  • Site-wide: 32,852 out of 62,725

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

• Downloaded 686 times
• Download rankings, all-time:
  • Site-wide: 12,543 out of 62,725
  • In genomics: 1,725 out of 4,314
• Year to date:
  • Site-wide: 2,830 out of 62,725
• Since beginning of last month:
  • Site-wide: 9,485 out of 62,725

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

• Downloaded 663 times
• Download rankings, all-time:
  • Site-wide: 13,174 out of 62,725
  • In genomics: 1,777 out of 4,314
• Year to date:
  • Site-wide: 57,028 out of 62,725
• Since beginning of last month:
  • Site-wide: 50,861 out of 62,725

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

• Downloaded 588 times
• Download rankings, all-time:
  • Site-wide: 15,520 out of 62,725
  • In genomics: 1,970 out of 4,314
• Year to date:
  • Site-wide: 41,353 out of 62,725
• Since beginning of last month:
  • Site-wide: 44,847 out of 62,725

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

• Downloaded 584 times
• Download rankings, all-time:
  • Site-wide: 15,661 out of 62,725
  • In genetics: 1,079 out of 3,562
• Year to date:
  • Site-wide: 3,758 out of 62,725
• Since beginning of last month:
  • Site-wide: 10,569 out of 62,725

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 564 times
• Download rankings, all-time:
  • Site-wide: 16,409 out of 62,725
  • In genetics: 1,118 out of 3,562
• Year to date:
  • Site-wide: 10,928 out of 62,725
• Since beginning of last month:
  • Site-wide: 33,893 out of 62,725

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

• Downloaded 561 times
• Download rankings, all-time:
  • Site-wide: 16,521 out of 62,725
  • In genomics: 2,072 out of 4,314
• Year to date:
  • Site-wide: 52,808 out of 62,725
• Since beginning of last month:
  • Site-wide: 48,001 out of 62,725

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

• Downloaded 552 times
• Download rankings, all-time:
  • Site-wide: 16,866 out of 62,725
  • In genetics: 1,147 out of 3,562
• Year to date:
  • Site-wide: 4,113 out of 62,725
• Since beginning of last month:
  • Site-wide: 4,731 out of 62,725

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

• Downloaded 468 times
• Download rankings, all-time:
  • Site-wide: 20,765 out of 62,725
  • In genetics: 1,393 out of 3,562
• Year to date:
  • Site-wide: 43,849 out of 62,725
• Since beginning of last month:
  • Site-wide: 38,845 out of 62,725

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

• Downloaded 442 times
• Download rankings, all-time:
  • Site-wide: 22,231 out of 62,725
  • In genetics: 1,475 out of 3,562
• Year to date:
  • Site-wide: 5,976 out of 62,725
• Since beginning of last month:
  • Site-wide: 8,439 out of 62,725

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

• Downloaded 399 times
• Download rankings, all-time:
  • Site-wide: 24,826 out of 62,725
  • In genetics: 1,624 out of 3,562
• Year to date:
  • Site-wide: 54,844 out of 62,725
• Since beginning of last month:
  • Site-wide: 57,229 out of 62,725

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

• Downloaded 346 times
• Download rankings, all-time:
  • Site-wide: 28,733 out of 62,725
  • In genomics: 2,891 out of 4,314
• Year to date:
  • Site-wide: 8,990 out of 62,725
• Since beginning of last month:
  • Site-wide: 20,906 out of 62,725

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

• Downloaded 330 times
• Download rankings, all-time:
  • Site-wide: 30,164 out of 62,725
  • In genomics: 2,971 out of 4,314
• Year to date:
  • Site-wide: 9,734 out of 62,725
• Since beginning of last month:
  • Site-wide: 16,654 out of 62,725

Identification of pathogenic variant enriched regions across genes and gene families

• Downloaded 307 times
• Download rankings, all-time:
  • Site-wide: 32,238 out of 62,725
  • In genetics: 2,028 out of 3,562
• Year to date:
  • Site-wide: 10,897 out of 62,725
• Since beginning of last month:
  • Site-wide: 13,112 out of 62,725

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

• Downloaded 283 times
• Download rankings, all-time:
  • Site-wide: 34,479 out of 62,725
  • In genetics: 2,158 out of 3,562
• Year to date:
  • Site-wide: 12,323 out of 62,725
• Since beginning of last month:
  • Site-wide: 19,940 out of 62,725

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

• Downloaded 199 times
• Download rankings, all-time:
  • Site-wide: 44,041 out of 62,725
  • In genetics: 2,663 out of 3,562
• Year to date:
  • Site-wide: 45,847 out of 62,725
• Since beginning of last month:
  • Site-wide: 49,004 out of 62,725

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

• Downloaded 191 times
• Download rankings, all-time:
  • Site-wide: 45,087 out of 62,725
  • In genetics: 2,718 out of 3,562
• Year to date:
  • Site-wide: 21,012 out of 62,725
• Since beginning of last month:
  • Site-wide: 1,121 out of 62,725

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

• Downloaded 183 times
• Download rankings, all-time:
  • Site-wide: 46,135 out of 62,725
  • In epidemiology: 911 out of 1,556
• Year to date:
  • Site-wide: 48,817 out of 62,725
• Since beginning of last month:
  • Site-wide: 57,312 out of 62,725

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

• Downloaded 107 times
• Download rankings, all-time:
  • Site-wide: 56,091 out of 62,725
  • In genomics: 4,101 out of 4,314
• Year to date:
  • Site-wide: 37,872 out of 62,725
• Since beginning of last month:
  • Site-wide: 21,803 out of 62,725