Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 53,027 bioRxiv papers from 245,564 authors.

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Preprints

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

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

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New mutations, old statistical challenges

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Partitioning heritability by functional category using GWAS summary statistics

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

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Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

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

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Haplotypes of common SNPs can explain missing heritability of complex diseases

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

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Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

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De novo Variants In Neurodevelopmental Disorders With Epilepsy

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Genetics of 38 blood and urine biomarkers in the UK Biobank

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  • In genetics: 311 out of 3,086
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Population histories of the United States revealed through fine-scale migration and haplotype analysis

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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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Comparative genetic architectures of schizophrenia in East Asian and European populations

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

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Subtle stratification confounds estimates of heritability from rare variants

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  • In genetics: 559 out of 3,086
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Genome-wide association study implicates CHRNA2 in cannabis use disorder

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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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

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

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

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  • In genetics: 2,079 out of 3,086
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  • Site-wide: 36,178 out of 53,027

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

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  • Site-wide: 8,929 out of 53,027

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

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  • Site-wide: 11,892 out of 53,027

Identification of pathogenic variant enriched regions across genes and gene families

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  • Site-wide: 1,740 out of 53,027

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

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

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