Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 73,960 bioRxiv papers from 321,862 authors.

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Preprints

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

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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

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  • Site-wide: 68 out of 73,960

An Atlas of Genetic Correlations across Human Diseases and Traits

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  • In genomics: 21 out of 4,893
• Year to date:
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Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

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  • In genetics: 12 out of 4,052
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An open resource of structural variation for medical and population genetics

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  • Site-wide: 223 out of 73,960
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  • Site-wide: 223 out of 73,960

Partitioning heritability by functional category using GWAS summary statistics

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LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

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LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

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  • In bioinformatics: 42 out of 7,187
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  • Site-wide: 30,544 out of 73,960

New mutations, old statistical challenges

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  • Site-wide: 17,974 out of 73,960

Genomewide association study identifies 30 loci associated with bipolar disorder

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• Year to date:
  • Site-wide: 4,770 out of 73,960
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  • Site-wide: 4,770 out of 73,960

MTAG: Multi-Trait Analysis of GWAS

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  • In genomics: 86 out of 4,893
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  • Site-wide: 13,897 out of 73,960
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  • Site-wide: 13,897 out of 73,960

Common risk variants identified in autism spectrum disorder

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  • In genetics: 36 out of 4,052
• Year to date:
  • Site-wide: 4,951 out of 73,960
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  • Site-wide: 4,951 out of 73,960

Regional missense constraint improves variant deleteriousness prediction

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  • In genomics: 94 out of 4,893
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  • Site-wide: 930 out of 73,960

Current clinical use of polygenic scores will risk exacerbating health disparities

• Downloaded 5,592 times
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  • Site-wide: 416 out of 73,960
  • In genetics: 44 out of 4,052
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  • Site-wide: 1,261 out of 73,960
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  • Site-wide: 1,261 out of 73,960

Regulatory variants explain much more heritability than coding variants across 11 common diseases

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  • Site-wide: 25,435 out of 73,960

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

• Downloaded 3,927 times
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  • Site-wide: 808 out of 73,960
  • In genetics: 73 out of 4,052
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  • Site-wide: 11,954 out of 73,960
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  • Site-wide: 11,954 out of 73,960

Phenome-wide Heritability Analysis of the UK Biobank

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  • In genetics: 74 out of 4,052
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  • Site-wide: 35,235 out of 73,960
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  • Site-wide: 35,235 out of 73,960

Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

• Downloaded 3,001 times
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  • In genetics: 120 out of 4,052
• Year to date:
  • Site-wide: 29,277 out of 73,960
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  • Site-wide: 29,277 out of 73,960

Haplotypes of common SNPs can explain missing heritability of complex diseases

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  • In genetics: 123 out of 4,052
• Year to date:
  • Site-wide: 31,909 out of 73,960
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  • Site-wide: 31,909 out of 73,960

New synthetic-diploid benchmark for accurate variant calling evaluation

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  • Site-wide: 1,388 out of 73,960
  • In bioinformatics: 273 out of 7,187
• Year to date:
  • Site-wide: 18,993 out of 73,960
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  • Site-wide: 18,993 out of 73,960

Human demographic history impacts genetic risk prediction across diverse populations

• Downloaded 2,866 times
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  • Site-wide: 1,448 out of 73,960
  • In genomics: 324 out of 4,893
• Year to date:
  • Site-wide: 20,263 out of 73,960
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  • Site-wide: 20,263 out of 73,960

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

• Downloaded 2,661 times
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  • Site-wide: 1,637 out of 73,960
  • In evolutionary biology: 67 out of 4,771
• Year to date:
  • Site-wide: 18,467 out of 73,960
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  • Site-wide: 18,467 out of 73,960

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

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  • Site-wide: 1,713 out of 73,960
  • In genetics: 153 out of 4,052
• Year to date:
  • Site-wide: 26,760 out of 73,960
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  • Site-wide: 26,760 out of 73,960

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.

• Downloaded 2,484 times
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  • Site-wide: 1,875 out of 73,960
  • In genetics: 169 out of 4,052
• Year to date:
  • Site-wide: 34,875 out of 73,960
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  • Site-wide: 34,875 out of 73,960

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

• Downloaded 2,450 times
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  • Site-wide: 1,917 out of 73,960
  • In genomics: 413 out of 4,893
• Year to date:
  • Site-wide: 3,607 out of 73,960
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  • Site-wide: 3,607 out of 73,960

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

• Downloaded 2,396 times
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  • Site-wide: 1,996 out of 73,960
  • In genetics: 179 out of 4,052
• Year to date:
  • Site-wide: 46,861 out of 73,960
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  • Site-wide: 46,861 out of 73,960

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

• Downloaded 2,216 times
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  • In genetics: 207 out of 4,052
• Year to date:
  • Site-wide: 47,971 out of 73,960
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  • Site-wide: 47,971 out of 73,960

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

• Downloaded 2,197 times
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  • Site-wide: 2,331 out of 73,960
  • In bioinformatics: 460 out of 7,187
• Year to date:
  • Site-wide: 64,079 out of 73,960
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  • Site-wide: 64,079 out of 73,960

A global view of pleiotropy and genetic architecture in complex traits

• Downloaded 2,153 times
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  • Site-wide: 2,409 out of 73,960
  • In genetics: 215 out of 4,052
• Year to date:
  • Site-wide: 10,411 out of 73,960
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  • Site-wide: 10,411 out of 73,960

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

• Downloaded 2,010 times
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  • Site-wide: 2,703 out of 73,960
  • In genomics: 549 out of 4,893
• Year to date:
  • Site-wide: 55,808 out of 73,960
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  • Site-wide: 55,808 out of 73,960

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

• Downloaded 1,906 times
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  • Site-wide: 2,967 out of 73,960
  • In genetics: 256 out of 4,052
• Year to date:
  • Site-wide: 34,713 out of 73,960
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  • Site-wide: 34,713 out of 73,960

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

• Downloaded 1,848 times
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  • Site-wide: 3,128 out of 73,960
  • In genetics: 263 out of 4,052
• Year to date:
  • Site-wide: 3,988 out of 73,960
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  • Site-wide: 3,988 out of 73,960

Comparative genetic architectures of schizophrenia in East Asian and European populations

• Downloaded 1,761 times
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  • Site-wide: 3,405 out of 73,960
  • In genetics: 282 out of 4,052
• Year to date:
  • Site-wide: 6,247 out of 73,960
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  • Site-wide: 6,247 out of 73,960

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

• Downloaded 1,699 times
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  • In genetics: 298 out of 4,052
• Year to date:
  • Site-wide: 4,462 out of 73,960
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  • Site-wide: 4,462 out of 73,960

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

• Downloaded 1,648 times
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  • In genetics: 311 out of 4,052
• Year to date:
  • Site-wide: 30,856 out of 73,960
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  • Site-wide: 30,856 out of 73,960

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

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  • In bioinformatics: 747 out of 7,187
• Year to date:
  • Site-wide: 11,058 out of 73,960
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  • Site-wide: 11,058 out of 73,960

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

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  • In genetics: 313 out of 4,052
• Year to date:
  • Site-wide: 36,555 out of 73,960
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  • Site-wide: 36,555 out of 73,960

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

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  • In genetics: 335 out of 4,052
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  • Site-wide: 48,834 out of 73,960
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • In genomics: 837 out of 4,893
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  • Site-wide: 12,027 out of 73,960
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  • Site-wide: 12,027 out of 73,960

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

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  • In genetics: 387 out of 4,052
• Year to date:
  • Site-wide: 48,082 out of 73,960
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  • Site-wide: 48,082 out of 73,960

ASD and ADHD have a similar burden of rare protein-truncating variants

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  • In genetics: 394 out of 4,052
• Year to date:
  • Site-wide: 9,183 out of 73,960
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  • Site-wide: 9,183 out of 73,960

Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations

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  • In genetics: 408 out of 4,052
• Year to date:
  • Site-wide: 8,548 out of 73,960
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  • Site-wide: 8,548 out of 73,960

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

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

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  • In genetics: 500 out of 4,052
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  • Site-wide: 1,769 out of 73,960
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  • Site-wide: 1,769 out of 73,960

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

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  • Site-wide: 7,070 out of 73,960
  • In genetics: 545 out of 4,052
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  • Site-wide: 30,775 out of 73,960
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  • Site-wide: 30,775 out of 73,960

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

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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

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  • In genetics: 613 out of 4,052
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  • Site-wide: 57,602 out of 73,960
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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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Subtle stratification confounds estimates of heritability from rare variants

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  • Site-wide: 47,714 out of 73,960
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Haplotype sharing provides insights into fine-scale population history and disease in Finland

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  • Site-wide: 60,496 out of 73,960
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Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

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  • In genetics: 711 out of 4,052
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  • Site-wide: 8,771 out of 73,960
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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

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Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

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Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

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Functional partitioning of local and distal gene expression regulation in multiple human tissues

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Schizophrenia risk conferred by protein-coding de novo mutations

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

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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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Genetic markers of ADHD-related variations in intracranial volume

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Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation

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Bootstrat: Population Informed Bootstrapping for Rare Variant Tests

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RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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A method to exploit the structure of genetic ancestry space to enhance case-control studies

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Identification of risk variants and characterization of the polygenic architecture of disruptive behavior disorders in the context of ADHD

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Meta-analysis of Scandinavian Schizophrenia Exomes

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