Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 73,599 bioRxiv papers from 320,228 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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An Atlas of Genetic Correlations across Human Diseases and Traits

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Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

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An open resource of structural variation for medical and population genetics

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

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

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New mutations, old statistical challenges

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Genomewide association study identifies 30 loci associated with bipolar disorder

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Common risk variants identified in autism spectrum disorder

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Regional missense constraint improves variant deleteriousness prediction

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Current clinical use of polygenic scores will risk exacerbating health disparities

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  • In genetics: 44 out of 4,035
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Scaling accurate genetic variant discovery to tens of thousands of samples

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  • Site-wide: 769 out of 73,613

Genetics of 38 blood and urine biomarkers in the UK Biobank

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Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.

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Evaluating potential drug targets through human loss-of-function genetic variation

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  • In genomics: 214 out of 4,882
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Association mapping of inflammatory bowel disease loci to single variant resolution

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  • In genetics: 91 out of 4,035
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Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study

• Downloaded 3,261 times
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  • In genetics: 97 out of 4,035
• Year to date:
  • Site-wide: 39,227 out of 73,613
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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: 105 out of 4,035
• Year to date:
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Human demographic history impacts genetic risk prediction across diverse populations

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  • In genomics: 318 out of 4,882
• Year to date:
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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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  • In evolutionary biology: 67 out of 4,751
• Year to date:
  • Site-wide: 16,910 out of 73,613
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  • Site-wide: 16,910 out of 73,613

Transcript expression-aware annotation improves rare variant discovery and interpretation

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  • In genomics: 375 out of 4,882
• Year to date:
  • Site-wide: 4,573 out of 73,613
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  • Site-wide: 4,573 out of 73,613

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

• Downloaded 2,394 times
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  • In genetics: 178 out of 4,035
• Year to date:
  • Site-wide: 49,578 out of 73,613
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  • Site-wide: 49,578 out of 73,613

Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

• Downloaded 2,361 times
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  • In genomics: 429 out of 4,882
• Year to date:
  • Site-wide: 57,801 out of 73,613
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  • Site-wide: 57,801 out of 73,613

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

• Downloaded 2,245 times
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  • Site-wide: 2,235 out of 73,613
  • In genetics: 202 out of 4,035
• Year to date:
  • Site-wide: 67,367 out of 73,613
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  • Site-wide: 67,367 out of 73,613

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

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  • In genetics: 206 out of 4,035
• Year to date:
  • Site-wide: 45,440 out of 73,613
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  • Site-wide: 45,440 out of 73,613

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

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  • In genomics: 520 out of 4,882
• Year to date:
  • Site-wide: 1,955 out of 73,613
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  • Site-wide: 1,955 out of 73,613

Bayesian model comparison for rare variant association studies of multiple phenotypes

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  • In genetics: 252 out of 4,035
• Year to date:
  • Site-wide: 17,036 out of 73,613
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  • Site-wide: 17,036 out of 73,613

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

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  • In genetics: 257 out of 4,035
• Year to date:
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Abundant contribution of short tandem repeats to gene expression variation in humans

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  • In genomics: 616 out of 4,882
• Year to date:
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  • Site-wide: 60,340 out of 73,613

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

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  • In genetics: 282 out of 4,035
• Year to date:
  • Site-wide: 21,081 out of 73,613
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  • Site-wide: 21,081 out of 73,613

Comparative genetic architectures of schizophrenia in East Asian and European populations

• Downloaded 1,743 times
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  • In genetics: 283 out of 4,035
• Year to date:
  • Site-wide: 7,371 out of 73,613
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

• Downloaded 1,674 times
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• Year to date:
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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  • In genetics: 314 out of 4,035
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

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  • In genetics: 334 out of 4,035
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Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

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  • In genetics: 389 out of 4,035
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • In genomics: 855 out of 4,882
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ASD and ADHD have a similar burden of rare protein-truncating variants

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  • Site-wide: 9,973 out of 73,613
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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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An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

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Largest genome-wide association study for PTSD identifies genetic risk loci in European and African ancestries and implicates novel biological pathways

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Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

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

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Discovery of an autoimmunity-associated IL2RA enhancer by unbiased targeting of transcriptional activation

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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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The ExAC Browser: Displaying reference data information from over 60,000 exomes

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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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

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

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

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

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Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

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Paternal-age-related de novo mutations and risk for five disorders

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

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Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

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

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

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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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Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-Δ32 and other variants in gnomAD

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Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

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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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Novel protective associations with age-related macular degeneration: A common variant near CTRB1 and a rare variant in PELI3

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

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

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Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans

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

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

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

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The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation

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

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Junction-skipping regulation in complex disease

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Meta-analysis of Scandinavian Schizophrenia Exomes

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