Author: Po-Ru Loh

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Preprints

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

• Downloaded 8,933 times
• Download rankings, all-time:
  • Site-wide: 1,194
  • In bioinformatics: 64
• Year to date:
  • Site-wide: 2,818
• Since beginning of last month:
  • Site-wide: 3,557

Partitioning heritability by functional category using GWAS summary statistics

• Downloaded 8,203 times
• Download rankings, all-time:
  • Site-wide: 1,337
  • In genetics: 32
• Year to date:
  • Site-wide: 12,478
• Since beginning of last month:
  • Site-wide: 17,653

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

• Downloaded 7,245 times
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  • Site-wide: 1,555
  • In genomics: 121
• Year to date:
  • Site-wide: 82,302
• Since beginning of last month:
  • Site-wide: 65,517

Reconstructing Austronesian population history in Island Southeast Asia

• Downloaded 6,255 times
• Download rankings, all-time:
  • Site-wide: 1,895
  • In genetics: 58
• Year to date:
  • Site-wide: 3,473
• Since beginning of last month:
  • Site-wide: 7,610

LDpred-funct: incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

• Downloaded 5,127 times
• Download rankings, all-time:
  • Site-wide: 2,463
  • In genetics: 75
• Year to date:
  • Site-wide: 5,226
• Since beginning of last month:
  • Site-wide: 7,913

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

• Downloaded 4,391 times
• Download rankings, all-time:
  • Site-wide: 3,063
  • In genetics: 97
• Year to date:
  • Site-wide: 87,305
• Since beginning of last month:
  • Site-wide: 130,006

Mixed model association for biobank-scale data sets

• Downloaded 3,385 times
• Download rankings, all-time:
  • Site-wide: 4,401
  • In genetics: 157
• Year to date:
  • Site-wide: 67,754
• Since beginning of last month:
  • Site-wide: 71,731

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

• Downloaded 3,249 times
• Download rankings, all-time:
  • Site-wide: 4,665
  • In genetics: 177
• Year to date:
  • Site-wide: 75,783
• Since beginning of last month:
  • Site-wide: 41,410

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

• Downloaded 3,180 times
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  • Site-wide: 4,802
  • In genetics: 182
• Year to date:
  • Site-wide: 920
• Since beginning of last month:
  • Site-wide: 653

Haplotypes of common SNPs can explain missing heritability of complex diseases

• Downloaded 3,165 times
• Download rankings, all-time:
  • Site-wide: 4,825
  • In genetics: 185
• Year to date:
  • Site-wide: 78,403
• Since beginning of last month:
  • Site-wide: 118,338

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

• Downloaded 3,067 times
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  • Site-wide: 5,061
  • In bioinformatics: 483
• Year to date:
  • Site-wide: 67,863
• Since beginning of last month:
  • Site-wide: 106,670

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

• Downloaded 2,877 times
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  • Site-wide: 5,555
  • In genetics: 225
• Year to date:
  • Site-wide: 76,541
• Since beginning of last month:
  • Site-wide: 91,912

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

• Downloaded 2,632 times
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  • Site-wide: 6,311
  • In genetics: 263
• Year to date:
  • Site-wide: 75,841
• Since beginning of last month:
  • Site-wide: 109,944

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

• Downloaded 2,385 times
• Download rankings, all-time:
  • Site-wide: 7,303
  • In genetics: 309
• Year to date:
  • Site-wide: 96,545
• Since beginning of last month:
  • Site-wide: 78,202

Efficient Bayesian mixed model analysis increases association power in large cohorts

• Downloaded 2,317 times
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  • Site-wide: 7,620
  • In genetics: 327
• Year to date:
  • Site-wide: 107,320
• Since beginning of last month:
  • Site-wide: 128,917

Estimating the proportion of disease heritability mediated by gene expression levels

• Downloaded 2,284 times
• Download rankings, all-time:
  • Site-wide: 7,784
  • In genetics: 335
• Year to date:
  • Site-wide: 83,427
• Since beginning of last month:
  • Site-wide: 57,701

Reference-based phasing using the Haplotype Reference Consortium panel

• Downloaded 1,928 times
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  • Site-wide: 9,929
  • In genetics: 412
• Year to date:
  • Site-wide: 93,078
• Since beginning of last month:
  • Site-wide: 118,308

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

• Downloaded 1,817 times
• Download rankings, all-time:
  • Site-wide: 10,873
  • In bioinformatics: 1,231
• Year to date:
  • Site-wide: 81,430
• Since beginning of last month:
  • Site-wide: 126,537

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

• Downloaded 1,768 times
• Download rankings, all-time:
  • Site-wide: 11,317
  • In genetics: 483
• Year to date:
  • Site-wide: 99,122
• Since beginning of last month:
  • Site-wide: 126,980

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

• Downloaded 1,723 times
• Download rankings, all-time:
  • Site-wide: 11,763
  • In genetics: 514
• Year to date:
  • Site-wide: 136,989
• Since beginning of last month:
  • Site-wide: 130,070

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

• Downloaded 1,637 times
• Download rankings, all-time:
  • Site-wide: 12,676
  • In genetics: 560
• Year to date:
  • Site-wide: 129,637
• Since beginning of last month:
  • Site-wide: 126,914

Monogenic and polygenic inheritance become instruments for clonal selection

• Downloaded 1,544 times
• Download rankings, all-time:
  • Site-wide: 13,766
  • In genetics: 610
• Year to date:
  • Site-wide: 93,187
• Since beginning of last month:
  • Site-wide: 116,770

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

• Downloaded 1,462 times
• Download rankings, all-time:
  • Site-wide: 15,055
  • In genetics: 674
• Year to date:
  • Site-wide: 108,929
• Since beginning of last month:
  • Site-wide: 83,710

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

• Downloaded 1,450 times
• Download rankings, all-time:
  • Site-wide: 15,224
  • In genetics: 680
• Year to date:
  • Site-wide: 70,718
• Since beginning of last month:
  • Site-wide: 99,962

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

• Downloaded 1,437 times
• Download rankings, all-time:
  • Site-wide: 15,440
  • In genetics: 694
• Year to date:
  • Site-wide: 149,349
• Since beginning of last month:
  • Site-wide: 157,328

Leveraging polygenic functional enrichment to improve GWAS power

• Downloaded 1,379 times
• Download rankings, all-time:
  • Site-wide: 16,436
  • In genetics: 744
• Year to date:
  • Site-wide: 131,336
• Since beginning of last month:
  • Site-wide: 83,622

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

• Downloaded 1,326 times
• Download rankings, all-time:
  • Site-wide: 17,418
  • In genetics: 788
• Year to date:
  • Site-wide: 92,097
• Since beginning of last month:
  • Site-wide: 91,946

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

• Downloaded 1,307 times
• Download rankings, all-time:
  • Site-wide: 17,798
  • In genetic and genomic medicine: 81
• Year to date:
  • Site-wide: 5,850
• Since beginning of last month:
  • Site-wide: 10,807

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

• Downloaded 1,294 times
• Download rankings, all-time:
  • Site-wide: 18,032
  • In genomics: 1,732
• Year to date:
  • Site-wide: 107,128
• Since beginning of last month:
  • Site-wide: 116,587

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

• Downloaded 1,276 times
• Download rankings, all-time:
  • Site-wide: 18,413
  • In genetics: 837
• Year to date:
  • Site-wide: 57,266
• Since beginning of last month:
  • Site-wide: 106,796

Large mosaic copy number variations confer autism risk

• Downloaded 1,264 times
• Download rankings, all-time:
  • Site-wide: 18,692
  • In genetic and genomic medicine: 84
• Year to date:
  • Site-wide: 24,919
• Since beginning of last month:
  • Site-wide: 54,270

Subtle stratification confounds estimates of heritability from rare variants

• Downloaded 1,218 times
• Download rankings, all-time:
  • Site-wide: 19,746
  • In genetics: 893
• Year to date:
  • Site-wide: 94,452
• Since beginning of last month:
  • Site-wide: 92,375

Estimating the effective sample size in association studies of quantitative traits

• Downloaded 1,175 times
• Download rankings, all-time:
  • Site-wide: 20,855
  • In genetics: 933
• Year to date:
  • Site-wide: 13,152
• Since beginning of last month:
  • Site-wide: 18,846

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

• Downloaded 1,081 times
• Download rankings, all-time:
  • Site-wide: 23,578
  • In genetics: 1,046
• Year to date:
  • Site-wide: 94,324
• Since beginning of last month:
  • Site-wide: 77,411

Two variance component model improves genetic prediction in family data sets

• Downloaded 1,050 times
• Download rankings, all-time:
  • Site-wide: 24,642
  • In genetics: 1,100
• Year to date:
  • Site-wide: 142,860
• Since beginning of last month:
  • Site-wide: 157,283

Correcting subtle stratification in summary association statistics

• Downloaded 1,042 times
• Download rankings, all-time:
  • Site-wide: 24,927
  • In genetics: 1,112
• Year to date:
  • Site-wide: 105,035
• Since beginning of last month:
  • Site-wide: 118,434

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

• Downloaded 1,037 times
• Download rankings, all-time:
  • Site-wide: 25,122
  • In genetics: 1,120
• Year to date:
  • Site-wide: 110,429
• Since beginning of last month:
  • Site-wide: 99,917

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses

• Downloaded 1,015 times
• Download rankings, all-time:
  • Site-wide: 25,899
  • In genetic and genomic medicine: 112
• Year to date:
  • Site-wide: 10,860
• Since beginning of last month:
  • Site-wide: 21,961

Genes with high network connectivity are enriched for disease heritability

• Downloaded 968 times
• Download rankings, all-time:
  • Site-wide: 27,819
  • In genetics: 1,244
• Year to date:
  • Site-wide: 131,254
• Since beginning of last month:
  • Site-wide: 136,350

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

• Downloaded 875 times
• Download rankings, all-time:
  • Site-wide: 32,113
  • In genetics: 1,440
• Year to date:
  • Site-wide: 123,010
• Since beginning of last month:
  • Site-wide: 143,296

Coordinated Interaction: A model and test for globally signed epistasis in complex traits

• Downloaded 790 times
• Download rankings, all-time:
  • Site-wide: 37,075
  • In genetics: 1,644
• Year to date:
  • Site-wide: 66,550
• Since beginning of last month:
  • Site-wide: 58,290

Incorporating family history of disease improves polygenic risk scores in diverse populations

• Downloaded 757 times
• Download rankings, all-time:
  • Site-wide: 39,388
  • In genetics: 1,737
• Year to date:
  • Site-wide: 6,605
• Since beginning of last month:
  • Site-wide: 14,103

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

• Downloaded 674 times
• Download rankings, all-time:
  • Site-wide: 46,090
  • In genetics: 2,023
• Year to date:
  • Site-wide: 104,774
• Since beginning of last month:
  • Site-wide: 128,022

The genomic landscape of clonal hematopoiesis in Japan

• Downloaded 666 times
• Download rankings, all-time:
  • Site-wide: 46,789
  • In genetics: 2,057
• Year to date:
  • Site-wide: 103,187
• Since beginning of last month:
  • Site-wide: 77,185

Mixed Model Association with Family-Biased Case-Control Ascertainment

• Downloaded 514 times
• Download rankings, all-time:
  • Site-wide: 64,575
  • In genetics: 2,799
• Year to date:
  • Site-wide: 154,950
• Since beginning of last month:
  • Site-wide: 143,122

Learning the mutational landscape of the cancer genome

• Downloaded 356 times
• Download rankings, all-time:
  • Site-wide: 93,434
  • In cancer biology: 2,782
• Year to date:
  • Site-wide: 20,328
• Since beginning of last month:
  • Site-wide: 4,894