Author: Alkes L. Price

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Preprints

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

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  • Site-wide: 334
  • In genomics: 13
• Year to date:
  • Site-wide: 5,127
• Since beginning of last month:
  • Site-wide: 5,731

An Atlas of Genetic Correlations across Human Diseases and Traits

• Downloaded 14,495 times
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  • Site-wide: 468
  • In genomics: 28
• Year to date:
  • Site-wide: 11,132
• Since beginning of last month:
  • Site-wide: 9,893

Partitioning heritability by functional category using GWAS summary statistics

• Downloaded 7,883 times
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  • Site-wide: 1,081
  • In genetics: 32
• Year to date:
  • Site-wide: 12,391
• Since beginning of last month:
  • Site-wide: 8,981

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

• Downloaded 7,275 times
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  • Site-wide: 1,208
  • In bioinformatics: 78
• Year to date:
  • Site-wide: 33,257
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  • Site-wide: 34,221

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

• Downloaded 7,173 times
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  • Site-wide: 1,224
  • In genomics: 114
• Year to date:
  • Site-wide: 66,695
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  • Site-wide: 63,607

Distinguishing genetic correlation from causation across 52 diseases and complex traits

• Downloaded 4,618 times
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  • Site-wide: 2,212
  • In genetics: 79
• Year to date:
  • Site-wide: 55,053
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  • Site-wide: 60,643

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

• Downloaded 4,609 times
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  • Site-wide: 2,219
  • In genetics: 80
• Year to date:
  • Site-wide: 4,302
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  • Site-wide: 4,193

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

• Downloaded 4,460 times
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  • Site-wide: 2,320
  • In genetics: 87
• Year to date:
  • Site-wide: 87,909
• Since beginning of last month:
  • Site-wide: 77,858

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

• Downloaded 4,330 times
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  • Site-wide: 2,422
  • In genetics: 91
• Year to date:
  • Site-wide: 60,272
• Since beginning of last month:
  • Site-wide: 88,290

Mixed model association for biobank-scale data sets

• Downloaded 3,289 times
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  • Site-wide: 3,608
  • In genetics: 144
• Year to date:
  • Site-wide: 64,139
• Since beginning of last month:
  • Site-wide: 46,271

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

• Downloaded 3,175 times
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  • Site-wide: 3,807
  • In genetics: 161
• Year to date:
  • Site-wide: 56,383
• Since beginning of last month:
  • Site-wide: 53,773

Haplotypes of common SNPs can explain missing heritability of complex diseases

• Downloaded 3,080 times
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  • Site-wide: 3,957
  • In genetics: 169
• Year to date:
  • Site-wide: 80,076
• Since beginning of last month:
  • Site-wide: 70,123

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

• Downloaded 2,996 times
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  • Site-wide: 4,109
  • In bioinformatics: 428
• Year to date:
  • Site-wide: 41,217
• Since beginning of last month:
  • Site-wide: 51,082

Integrative approaches for large-scale transcriptome-wide association studies

• Downloaded 2,907 times
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  • Site-wide: 4,286
  • In genetics: 190
• Year to date:
  • Site-wide: 36,198
• Since beginning of last month:
  • Site-wide: 33,773

Dissecting the genetics of complex traits using summary association statistics

• Downloaded 2,865 times
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  • Site-wide: 4,373
  • In genetics: 192
• Year to date:
  • Site-wide: 27,575
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  • Site-wide: 38,017

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

• Downloaded 2,807 times
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  • Site-wide: 4,505
  • In genetics: 198
• Year to date:
  • Site-wide: 52,983
• Since beginning of last month:
  • Site-wide: 72,268

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

• Downloaded 2,579 times
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  • Site-wide: 5,089
  • In genetics: 229
• Year to date:
  • Site-wide: 5,606
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  • Site-wide: 4,307

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

• Downloaded 2,569 times
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  • Site-wide: 5,123
  • In genomics: 578
• Year to date:
  • Site-wide: 116,605
• Since beginning of last month:
  • Site-wide: 109,063

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

• Downloaded 2,548 times
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  • Site-wide: 5,181
  • In genetics: 236
• Year to date:
  • Site-wide: 69,397
• Since beginning of last month:
  • Site-wide: 63,557

Genome-wide maps of enhancer regulation connect risk variants to disease genes

• Downloaded 2,546 times
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  • Site-wide: 5,189
  • In genetics: 237
• Year to date:
  • Site-wide: 2,726
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  • Site-wide: 2,884

A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2

• Downloaded 2,440 times
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  • Site-wide: 5,565
  • In genomics: 638
• Year to date:
  • Site-wide: 359
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  • Site-wide: 174

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

• Downloaded 2,419 times
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  • Site-wide: 5,625
  • In genetics: 263
• Year to date:
  • Site-wide: 7,196
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  • Site-wide: 5,572

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

• Downloaded 2,319 times
• Download rankings, all-time:
  • Site-wide: 5,987
  • In genetics: 280
• Year to date:
  • Site-wide: 93,157
• Since beginning of last month:
  • Site-wide: 110,890

Efficient Bayesian mixed model analysis increases association power in large cohorts

• Downloaded 2,283 times
• Download rankings, all-time:
  • Site-wide: 6,121
  • In genetics: 292
• Year to date:
  • Site-wide: 57,000
• Since beginning of last month:
  • Site-wide: 44,124

Estimating the proportion of disease heritability mediated by gene expression levels

• Downloaded 2,208 times
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  • Site-wide: 6,428
  • In genetics: 309
• Year to date:
  • Site-wide: 77,179
• Since beginning of last month:
  • Site-wide: 78,942

Polygenicity of complex traits is explained by negative selection

• Downloaded 1,933 times
• Download rankings, all-time:
  • Site-wide: 7,823
  • In genetics: 363
• Year to date:
  • Site-wide: 58,798
• Since beginning of last month:
  • Site-wide: 79,466

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

• Downloaded 1,893 times
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  • Site-wide: 8,061
  • In genomics: 878
• Year to date:
  • Site-wide: 94,824
• Since beginning of last month:
  • Site-wide: 99,753

Reference-based phasing using the Haplotype Reference Consortium panel

• Downloaded 1,876 times
• Download rankings, all-time:
  • Site-wide: 8,184
  • In genetics: 381
• Year to date:
  • Site-wide: 59,744
• Since beginning of last month:
  • Site-wide: 88,484

Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics

• Downloaded 1,803 times
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  • Site-wide: 8,680
  • In genomics: 947
• Year to date:
  • Site-wide: 519
• Since beginning of last month:
  • Site-wide: 152

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

• Downloaded 1,757 times
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  • Site-wide: 9,028
  • In genetics: 432
• Year to date:
  • Site-wide: 17,592
• Since beginning of last month:
  • Site-wide: 48,421

Reconciling S-LDSC and LDAK models and functional enrichment estimates

• Downloaded 1,757 times
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  • Site-wide: 9,033
  • In genetics: 431
• Year to date:
  • Site-wide: 25,770
• Since beginning of last month:
  • Site-wide: 23,147

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

• Downloaded 1,756 times
• Download rankings, all-time:
  • Site-wide: 9,036
  • In bioinformatics: 1,099
• Year to date:
  • Site-wide: 51,911
• Since beginning of last month:
  • Site-wide: 30,589

Transethnic genetic correlation estimates from summary statistics

• Downloaded 1,741 times
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  • Site-wide: 9,171
  • In genetics: 439
• Year to date:
  • Site-wide: 73,442
• Since beginning of last month:
  • Site-wide: 72,284

Quantifying genetic effects on disease mediated by assayed gene expression levels

• Downloaded 1,715 times
• Download rankings, all-time:
  • Site-wide: 9,376
  • In genetics: 451
• Year to date:
  • Site-wide: 29,104
• Since beginning of last month:
  • Site-wide: 26,331

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

• Downloaded 1,715 times
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  • Site-wide: 9,378
  • In genetics: 450
• Year to date:
  • Site-wide: 72,286
• Since beginning of last month:
  • Site-wide: 49,502

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

• Downloaded 1,685 times
• Download rankings, all-time:
  • Site-wide: 9,629
  • In genetics: 458
• Year to date:
  • Site-wide: 127,323
• Since beginning of last month:
  • Site-wide: 130,483

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

• Downloaded 1,418 times
• Download rankings, all-time:
  • Site-wide: 12,398
  • In genetics: 607
• Year to date:
  • Site-wide: 104,766
• Since beginning of last month:
  • Site-wide: 88,612

In silico integration of thousands of epigenetic datasets into 707 cell type regulatory annotations improves the trans-ethnic portability of polygenic risk scores

• Downloaded 1,343 times
• Download rankings, all-time:
  • Site-wide: 13,453
  • In genetics: 658
• Year to date:
  • Site-wide: 31,181
• Since beginning of last month:
  • Site-wide: 26,953

Leveraging polygenic functional enrichment to improve GWAS power

• Downloaded 1,340 times
• Download rankings, all-time:
  • Site-wide: 13,488
  • In genetics: 661
• Year to date:
  • Site-wide: 117,798
• Since beginning of last month:
  • Site-wide: 124,465

Evaluating the informativeness of deep learning annotations for human complex diseases

• Downloaded 1,281 times
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  • Site-wide: 14,478
  • In genetics: 720
• Year to date:
  • Site-wide: 62,963
• Since beginning of last month:
  • Site-wide: 60,980

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

• Downloaded 1,251 times
• Download rankings, all-time:
  • Site-wide: 14,980
  • In genetics: 743
• Year to date:
  • Site-wide: 125,475
• Since beginning of last month:
  • Site-wide: 132,224

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

• Downloaded 1,243 times
• Download rankings, all-time:
  • Site-wide: 15,137
  • In genomics: 1,572
• Year to date:
  • Site-wide: 86,408
• Since beginning of last month:
  • Site-wide: 114,940

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

• Downloaded 1,204 times
• Download rankings, all-time:
  • Site-wide: 15,881
  • In genetics: 789
• Year to date:
  • Site-wide: 29,712
• Since beginning of last month:
  • Site-wide: 28,838

Subtle stratification confounds estimates of heritability from rare variants

• Downloaded 1,160 times
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  • Site-wide: 16,802
  • In genetics: 826
• Year to date:
  • Site-wide: 72,055
• Since beginning of last month:
  • Site-wide: 59,882

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

• Downloaded 1,095 times
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  • Site-wide: 18,258
  • In genetics: 899
• Year to date:
  • Site-wide: 38,137
• Since beginning of last month:
  • Site-wide: 74,949

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

• Downloaded 1,061 times
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  • Site-wide: 19,166
  • In genetics: 933
• Year to date:
  • Site-wide: 110,479
• Since beginning of last month:
  • Site-wide: 114,751

Two variance component model improves genetic prediction in family data sets

• Downloaded 1,029 times
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  • Site-wide: 20,023
  • In genetics: 968
• Year to date:
  • Site-wide: 93,126
• Since beginning of last month:
  • Site-wide: 113,730

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

• Downloaded 1,024 times
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  • Site-wide: 20,183
  • In genetics: 974
• Year to date:
  • Site-wide: 68,690
• Since beginning of last month:
  • Site-wide: 90,294

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

• Downloaded 984 times
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  • Site-wide: 21,317
  • In genetics: 1,024
• Year to date:
  • Site-wide: 98,974
• Since beginning of last month:
  • Site-wide: 107,848

Correcting subtle stratification in summary association statistics

• Downloaded 983 times
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  • Site-wide: 21,374
  • In genetics: 1,026
• Year to date:
  • Site-wide: 102,631
• Since beginning of last month:
  • Site-wide: 65,229

Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS

• Downloaded 960 times
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  • Site-wide: 22,112
  • In genetics: 1,066
• Year to date:
  • Site-wide: 8,350
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  • Site-wide: 6,119

Genes with high network connectivity are enriched for disease heritability

• Downloaded 937 times
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  • Site-wide: 22,919
  • In genetics: 1,108
• Year to date:
  • Site-wide: 93,150
• Since beginning of last month:
  • Site-wide: 73,366

Leveraging fine-mapping and non-European training data to improve trans-ethnic polygenic risk scores

• Downloaded 908 times
• Download rankings, all-time:
  • Site-wide: 23,990
  • In genetic and genomic medicine: 80
• Year to date:
  • Site-wide: 1,195
• Since beginning of last month:
  • Site-wide: 2,326

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

• Downloaded 856 times
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  • Site-wide: 26,086
  • In genomics: 2,451
• Year to date:
  • Site-wide: 131,192
• Since beginning of last month:
  • Site-wide: 114,810

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

• Downloaded 832 times
• Download rankings, all-time:
  • Site-wide: 27,145
  • In genetics: 1,316
• Year to date:
  • Site-wide: 108,456
• Since beginning of last month:
  • Site-wide: 90,706

Leveraging distant relatedness to quantify human mutation and gene conversion rates

• Downloaded 764 times
• Download rankings, all-time:
  • Site-wide: 30,603
  • In genetics: 1,482
• Year to date:
  • Site-wide: 122,011
• Since beginning of last month:
  • Site-wide: 113,738

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

• Downloaded 624 times
• Download rankings, all-time:
  • Site-wide: 40,080
  • In genetics: 1,905
• Year to date:
  • Site-wide: 79,884
• Since beginning of last month:
  • Site-wide: 73,506

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

• Downloaded 593 times
• Download rankings, all-time:
  • Site-wide: 42,791
  • In genetics: 2,019
• Year to date:
  • Site-wide: 114,103
• Since beginning of last month:
  • Site-wide: 113,817

Negative short-range genomic autocorrelation of causal effects on human complex traits

• Downloaded 578 times
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  • Site-wide: 44,123
  • In genetics: 2,075
• Year to date:
  • Site-wide: 23,167
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  • Site-wide: 18,045

Explicit modeling of ancestry improves polygenic risk scores and BLUP prediction

• Downloaded 561 times
• Download rankings, all-time:
  • Site-wide: 45,871
  • In genetics: 2,161
• Year to date:
  • Site-wide: 110,134
• Since beginning of last month:
  • Site-wide: 99,271

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

• Downloaded 561 times
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  • Site-wide: 45,850
  • In genetics: 2,162
• Year to date:
  • Site-wide: 117,822
• Since beginning of last month:
  • Site-wide: 113,268

Shared heritability and functional enrichment across six solid cancers

• Downloaded 530 times
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  • Site-wide: 49,069
  • In genomics: 3,873
• Year to date:
  • Site-wide: 116,128
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  • Site-wide: 117,679

Mixed Model Association with Family-Biased Case-Control Ascertainment

• Downloaded 494 times
• Download rankings, all-time:
  • Site-wide: 53,269
  • In genetics: 2,467
• Year to date:
  • Site-wide: 127,207
• Since beginning of last month:
  • Site-wide: 125,867

Functional disease architectures reveal unique biological role of transposable elements

• Downloaded 489 times
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  • Site-wide: 53,865
  • In genetics: 2,505
• Year to date:
  • Site-wide: 126,340
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  • Site-wide: 118,087

Integrative approaches to improve the informativeness of deep learning models for human complex diseases

• Downloaded 363 times
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  • Site-wide: 72,709
  • In genetics: 3,319
• Year to date:
  • Site-wide: 18,835
• Since beginning of last month:
  • Site-wide: 25,540