Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 57,294 bioRxiv papers from 263,837 authors.

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Preprints

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

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Partitioning heritability by functional category using GWAS summary statistics

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  • In genetics: 25 out of 3,275
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  • Site-wide: 3,873 out of 57,294

Fast, sensitive, and accurate integration of single cell data with Harmony

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  • In bioinformatics: 105 out of 5,858
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  • Site-wide: 153 out of 57,294
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  • Site-wide: 389 out of 57,294

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

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  • In genetics: 68 out of 3,275
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Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

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  • In bioinformatics: 179 out of 5,858
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  • Site-wide: 15,323 out of 57,294

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

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  • In genetics: 101 out of 3,275
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  • Site-wide: 32,402 out of 57,294
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  • Site-wide: 18,582 out of 57,294

Haplotypes of common SNPs can explain missing heritability of complex diseases

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  • In genetics: 102 out of 3,275
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  • Site-wide: 21,146 out of 57,294

Mixed model association for biobank-scale data sets

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  • In genetics: 104 out of 3,275
• Year to date:
  • Site-wide: 8,116 out of 57,294
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  • Site-wide: 19,696 out of 57,294

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

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  • In bioinformatics: 257 out of 5,858
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  • Site-wide: 13,285 out of 57,294

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

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  • In genetics: 133 out of 3,275
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  • Site-wide: 20,977 out of 57,294
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  • Site-wide: 15,278 out of 57,294

Reconstructing Austronesian population history in Island Southeast Asia

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  • In genetics: 135 out of 3,275
• Year to date:
  • Site-wide: 3,783 out of 57,294
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  • Site-wide: 2,217 out of 57,294

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

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  • In genetics: 164 out of 3,275
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  • Site-wide: 16,066 out of 57,294
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  • Site-wide: 16,774 out of 57,294

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

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  • In genetics: 180 out of 3,275
• Year to date:
  • Site-wide: 24,194 out of 57,294
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  • Site-wide: 15,823 out of 57,294

Efficient Bayesian mixed model analysis increases association power in large cohorts

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  • Site-wide: 1,888 out of 57,294
  • In genetics: 185 out of 3,275
• Year to date:
  • Site-wide: 33,884 out of 57,294
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  • Site-wide: 44,406 out of 57,294

Estimating the proportion of disease heritability mediated by gene expression levels

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  • Site-wide: 2,133 out of 57,294
  • In genetics: 210 out of 3,275
• Year to date:
  • Site-wide: 16,019 out of 57,294
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  • Site-wide: 17,211 out of 57,294

Reference-based phasing using the Haplotype Reference Consortium panel

• Downloaded 1,618 times
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  • In genetics: 263 out of 3,275
• Year to date:
  • Site-wide: 36,065 out of 57,294
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  • Site-wide: 40,027 out of 57,294

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

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  • In genetics: 294 out of 3,275
• Year to date:
  • Site-wide: 44,540 out of 57,294
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  • Site-wide: 46,334 out of 57,294

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

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  • In genetics: 303 out of 3,275
• Year to date:
  • Site-wide: 21,386 out of 57,294
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  • Site-wide: 12,420 out of 57,294

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

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  • Site-wide: 3,373 out of 57,294
  • In bioinformatics: 685 out of 5,858
• Year to date:
  • Site-wide: 17,759 out of 57,294
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  • Site-wide: 17,050 out of 57,294

Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes

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  • In genetics: 315 out of 3,275
• Year to date:
  • Site-wide: 42,719 out of 57,294
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  • Site-wide: 42,723 out of 57,294

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

• Downloaded 1,316 times
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  • Site-wide: 4,111 out of 57,294
  • In genetics: 351 out of 3,275
• Year to date:
  • Site-wide: 48,275 out of 57,294
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  • Site-wide: 44,929 out of 57,294

Modeling functional enrichment improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

• Downloaded 1,263 times
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  • Site-wide: 4,380 out of 57,294
  • In genetics: 368 out of 3,275
• Year to date:
  • Site-wide: 5,172 out of 57,294
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  • Site-wide: None out of 57,294

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

• Downloaded 1,070 times
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  • Site-wide: 5,768 out of 57,294
  • In genomics: 975 out of 4,011
• Year to date:
  • Site-wide: 40,794 out of 57,294
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  • Site-wide: 46,236 out of 57,294

Shared Genetic Architecture Of Asthma With Allergic Diseases: A Genome-wide Cross Trait Analysis Of 112,000 Individuals From UK Biobank

• Downloaded 1,022 times
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  • Site-wide: 6,218 out of 57,294
  • In genetics: 510 out of 3,275
• Year to date:
  • Site-wide: 25,642 out of 57,294
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  • Site-wide: 17,388 out of 57,294

Leveraging polygenic functional enrichment to improve GWAS power

• Downloaded 952 times
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  • Site-wide: 6,956 out of 57,294
  • In genetics: 556 out of 3,275
• Year to date:
  • Site-wide: 17,252 out of 57,294
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  • Site-wide: 27,439 out of 57,294

Subtle stratification confounds estimates of heritability from rare variants

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  • Site-wide: 7,275 out of 57,294
  • In genetics: 577 out of 3,275
• Year to date:
  • Site-wide: 35,704 out of 57,294
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  • Site-wide: 34,437 out of 57,294

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

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  • Site-wide: 7,507 out of 57,294
  • In genetics: 599 out of 3,275
• Year to date:
  • Site-wide: 2,333 out of 57,294
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  • Site-wide: 1,855 out of 57,294

Two variance component model improves genetic prediction in family data sets

• Downloaded 867 times
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  • Site-wide: 8,074 out of 57,294
  • In genetics: 628 out of 3,275
• Year to date:
  • Site-wide: 46,592 out of 57,294
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  • Site-wide: 26,703 out of 57,294

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

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  • Site-wide: 8,599 out of 57,294
  • In genetics: 653 out of 3,275
• Year to date:
  • Site-wide: 23,714 out of 57,294
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  • Site-wide: 21,810 out of 57,294

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

• Downloaded 783 times
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  • Site-wide: 9,463 out of 57,294
  • In genetics: 710 out of 3,275
• Year to date:
  • Site-wide: 1,600 out of 57,294
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  • Site-wide: 7,538 out of 57,294

Correcting subtle stratification in summary association statistics

• Downloaded 750 times
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  • Site-wide: 10,051 out of 57,294
  • In genetics: 737 out of 3,275
• Year to date:
  • Site-wide: 27,730 out of 57,294
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  • Site-wide: 36,760 out of 57,294

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

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  • Site-wide: 10,633 out of 57,294
  • In genetics: 776 out of 3,275
• Year to date:
  • Site-wide: 19,256 out of 57,294
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  • Site-wide: 20,639 out of 57,294

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

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  • Site-wide: 11,116 out of 57,294
  • In genetics: 799 out of 3,275
• Year to date:
  • Site-wide: 39,302 out of 57,294
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  • Site-wide: 40,817 out of 57,294

Monogenic and polygenic inheritance become instruments for clonal selection

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  • Site-wide: 11,952 out of 57,294
  • In genetics: 861 out of 3,275
• Year to date:
  • Site-wide: 2,143 out of 57,294
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  • Site-wide: 4,897 out of 57,294

Genes with high network connectivity are enriched for disease heritability

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  • Site-wide: 12,878 out of 57,294
  • In genetics: 921 out of 3,275
• Year to date:
  • Site-wide: 6,408 out of 57,294
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  • Site-wide: 20,948 out of 57,294

Mixed Model Association with Family-Biased Case-Control Ascertainment

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  • Site-wide: 22,180 out of 57,294
  • In genetics: 1,492 out of 3,275
• Year to date:
  • Site-wide: 47,743 out of 57,294
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  • Site-wide: 30,479 out of 57,294

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

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  • In genetics: 1,569 out of 3,275
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  • Site-wide: 23,487 out of 57,294

The genomic landscape of clonal hematopoiesis in Japan

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  • In genetics: 2,343 out of 3,275
• Year to date:
  • Site-wide: 13,110 out of 57,294
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  • Site-wide: 16,320 out of 57,294

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

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  • Site-wide: 39,149 out of 57,294
  • In genetics: 2,427 out of 3,275
• Year to date:
  • Site-wide: 14,135 out of 57,294
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  • Site-wide: 1,029 out of 57,294