Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 65,332 bioRxiv papers from 289,383 authors.

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Preprints

Quantitative analysis of population-scale family trees using millions of relatives

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An Atlas of Genetic Correlations across Human Diseases and Traits

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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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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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Distinguishing genetic correlation from causation across 52 diseases and complex traits

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

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

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Mixed model association for biobank-scale data sets

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  • In genetics: 112 out of 3,696
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  • Site-wide: 15,058 out of 65,332

Haplotypes of common SNPs can explain missing heritability of complex diseases

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  • In genetics: 115 out of 3,696
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  • Site-wide: 32,101 out of 65,332

Fast principal components analysis reveals convergent evolution of ADH1B gene in Europe and East Asia

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  • In bioinformatics: 274 out of 6,471
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Integrative approaches for large-scale transcriptome-wide association studies

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  • In genetics: 136 out of 3,696
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Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

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Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

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Dissecting the genetics of complex traits using summary association statistics

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  • In genetics: 161 out of 3,696
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  • Site-wide: 22,268 out of 65,332

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

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  • In genetics: 171 out of 3,696
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Modeling functional enrichment improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

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  • In genetics: 176 out of 3,696
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  • Site-wide: 1,419 out of 65,332

Fast and accurate long-range phasing in a UK Biobank cohort

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  • Site-wide: 29,301 out of 65,332
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  • Site-wide: 30,554 out of 65,332

Efficient Bayesian mixed model analysis increases association power in large cohorts

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  • In genetics: 202 out of 3,696
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  • Site-wide: 34,838 out of 65,332

Estimating the proportion of disease heritability mediated by gene expression levels

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  • Site-wide: 23,332 out of 65,332

Abundant contribution of short tandem repeats to gene expression variation in humans

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  • In genomics: 563 out of 4,459
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  • Site-wide: 59,828 out of 65,332

Reference-based phasing using the Haplotype Reference Consortium panel

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  • In genetics: 283 out of 3,696
• Year to date:
  • Site-wide: 40,170 out of 65,332
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  • Site-wide: 48,886 out of 65,332

Polygenicity of complex traits is explained by negative selection

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  • In genetics: 291 out of 3,696
• Year to date:
  • Site-wide: 2,700 out of 65,332
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  • Site-wide: 9,841 out of 65,332

Transethnic genetic correlation estimates from summary statistics

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  • In genetics: 308 out of 3,696
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  • Site-wide: 33,557 out of 65,332

Population structure of UK Biobank and ancient Eurasians reveals adaptation at genes influencing blood pressure

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  • Site-wide: 38,365 out of 65,332

Leveraging molecular QTL to understand the genetic architecture of diseases and complex traits

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  • In genetics: 322 out of 3,696
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  • Site-wide: 19,753 out of 65,332

Multi-ethnic polygenic risk scores improve risk prediction in diverse populations.

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  • In bioinformatics: 747 out of 6,471
• Year to date:
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  • Site-wide: 31,974 out of 65,332

Mixed Model with Correction for Case-Control Ascertainment Increases Association Power

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  • In genetics: 384 out of 3,696
• Year to date:
  • Site-wide: 55,384 out of 65,332
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  • Site-wide: 43,585 out of 65,332

Reconciling S-LDSC and LDAK models and functional enrichment estimates

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  • Site-wide: 7,825 out of 65,332

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

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

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High-throughput inference of pairwise coalescence times identifies signals of selection and enriched disease heritability

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Leveraging polygenic functional enrichment to improve GWAS power

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Subtle stratification confounds estimates of heritability from rare variants

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Two variance component model improves genetic prediction in family data sets

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Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations

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GBAT: a gene-based association method for robust trans-gene regulation detection

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  • Site-wide: 11,539 out of 65,332

Correcting subtle stratification in summary association statistics

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

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Quantification of genetic components of population differentiation in UK Biobank traits reveals signals of polygenic selection

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Quantification of frequency-dependent genetic architectures and action of negative selection in 25 UK Biobank traits

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Genes with high network connectivity are enriched for disease heritability

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Leveraging distant relatedness to quantify human mutation and gene conversion rates

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Functionally-informed fine-mapping and polygenic localization of complex trait heritability

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  • Site-wide: 185 out of 65,332

Quantifying genetic effects on disease mediated by assayed gene expression levels

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  • Site-wide: 2,291 out of 65,332

Local joint testing improves power and identifies missing heritability in association studies

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Explicit modeling of ancestry improves polygenic risk scores and BLUP prediction

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Disease heritability enrichment of regulatory elements is concentrated in elements with ancient sequence age and conserved function across species

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Mixed Model Association with Family-Biased Case-Control Ascertainment

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Combining case-control status and family history of disease increases association power

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Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability

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Shared heritability and functional enrichment across six solid cancers

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Functional disease architectures reveal unique biological role of transposable elements

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Population-specific causal disease effect sizes in functionally important regions impacted by selection

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