Author: Manuel A Rivas

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Preprints

Genetics of 38 blood and urine biomarkers in the UK Biobank

• Downloaded 7,012 times
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  • Site-wide: 1,256
  • In genetics: 43
• Year to date:
  • Site-wide: 1,567
• Since beginning of last month:
  • Site-wide: 2,317

Transcriptome-wide association studies: opportunities and challenges

• Downloaded 4,827 times
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  • Site-wide: 2,076
  • In genetics: 74
• Year to date:
  • Site-wide: 12,107
• Since beginning of last month:
  • Site-wide: 11,539

A Fast and Scalable Framework for Large-scale and Ultrahigh-dimensional Sparse Regression with Application to the UK Biobank

• Downloaded 4,242 times
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  • Site-wide: 2,483
  • In bioinformatics: 222
• Year to date:
  • Site-wide: 6,683
• Since beginning of last month:
  • Site-wide: 6,583

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

• Downloaded 3,864 times
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  • Site-wide: 2,852
  • In genetics: 110
• Year to date:
  • Site-wide: 1,596
• Since beginning of last month:
  • Site-wide: 4,881

Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study

• Downloaded 3,447 times
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  • Site-wide: 3,362
  • In genetics: 132
• Year to date:
  • Site-wide: 62,826
• Since beginning of last month:
  • Site-wide: 52,466

Bayesian model comparison for rare variant association studies of multiple phenotypes

• Downloaded 2,258 times
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  • Site-wide: 6,207
  • In genetics: 295
• Year to date:
  • Site-wide: 40,224
• Since beginning of last month:
  • Site-wide: 48,542

Assessing allele specific expression across multiple tissues from RNA-seq read data

• Downloaded 1,974 times
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  • Site-wide: 7,544
  • In bioinformatics: 910
• Year to date:
  • Site-wide: 105,841
• Since beginning of last month:
  • Site-wide: 88,601

A global atlas of genetic associations of 220 deep phenotypes

• Downloaded 1,938 times
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  • Site-wide: 7,760
  • In genetic and genomic medicine: 26
• Year to date:
  • Site-wide: 1,104
• Since beginning of last month:
  • Site-wide: 382

High-throughput SARS-CoV-2 and host genome sequencing from single nasopharyngeal swabs

• Downloaded 1,888 times
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  • Site-wide: 8,072
  • In genetic and genomic medicine: 30
• Year to date:
  • Site-wide: 4,780
• Since beginning of last month:
  • Site-wide: 7,938

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight novel adipocyte biology

• Downloaded 1,721 times
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  • Site-wide: 9,302
  • In genetics: 445
• Year to date:
  • Site-wide: 36,047
• Since beginning of last month:
  • Site-wide: 39,895

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

• Downloaded 1,660 times
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  • Site-wide: 9,806
  • In genetics: 468
• Year to date:
  • Site-wide: 60,483
• Since beginning of last month:
  • Site-wide: 38,999

Phenome-wide burden of copy number variation in UK Biobank

• Downloaded 1,660 times
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  • Site-wide: 9,810
  • In genomics: 1,069
• Year to date:
  • Site-wide: 49,303
• Since beginning of last month:
  • Site-wide: 52,429

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

• Downloaded 1,530 times
• Download rankings, all-time:
  • Site-wide: 11,031
  • In genetics: 532
• Year to date:
  • Site-wide: 119,156
• Since beginning of last month:
  • Site-wide: 127,192

Polygenic risk modeling with latent trait-related genetic components

• Downloaded 1,525 times
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  • Site-wide: 11,085
  • In genomics: 1,203
• Year to date:
  • Site-wide: 13,606
• Since beginning of last month:
  • Site-wide: 30,290

FasTag: automatic text classification of unstructured medical narratives

• Downloaded 1,433 times
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  • Site-wide: 12,147
  • In epidemiology: 825
• Year to date:
  • Site-wide: 29,518
• Since beginning of last month:
  • Site-wide: 25,236

Fast Lasso method for Large-scale and Ultrahigh-dimensional Cox Model with applications to UK Biobank

• Downloaded 1,431 times
• Download rankings, all-time:
  • Site-wide: 12,184
  • In bioinformatics: 1,484
• Year to date:
  • Site-wide: 26,596
• Since beginning of last month:
  • Site-wide: 34,082

Race, Socioeconomic Deprivation, and Hospitalization for COVID-19 in English participants of a National Biobank

• Downloaded 1,393 times
• Download rankings, all-time:
  • Site-wide: 12,699
  • In epidemiology: 850
• Year to date:
  • Site-wide: 23,272
• Since beginning of last month:
  • Site-wide: 28,661

Sex-specific genetic effects across biomarkers

• Downloaded 1,205 times
• Download rankings, all-time:
  • Site-wide: 15,818
  • In genetics: 783
• Year to date:
  • Site-wide: 12,036
• Since beginning of last month:
  • Site-wide: 13,579

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

• Downloaded 1,177 times
• Download rankings, all-time:
  • Site-wide: 16,399
  • In bioinformatics: 1,972
• Year to date:
  • Site-wide: 92,953
• Since beginning of last month:
  • Site-wide: 57,194

Large-scale phenome-wide association study of PCSK9 loss-of-function variants demonstrates protection against ischemic stroke

• Downloaded 1,126 times
• Download rankings, all-time:
  • Site-wide: 17,499
  • In genetics: 859
• Year to date:
  • Site-wide: 69,783
• Since beginning of last month:
  • Site-wide: 57,738

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

• Downloaded 922 times
• Download rankings, all-time:
  • Site-wide: 23,418
  • In genetics: 1,134
• Year to date:
  • Site-wide: 78,444
• Since beginning of last month:
  • Site-wide: 112,647

Dopaminergic stimulants and risk of Parkinson's disease

• Downloaded 888 times
• Download rankings, all-time:
  • Site-wide: 24,723
  • In pharmacology and therapeutics: 32
• Year to date:
  • Site-wide: 7,694
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  • Site-wide: 8,303

Large-Scale Sparse Regression for Multiple Responses with Applications to UK Biobank

• Downloaded 850 times
• Download rankings, all-time:
  • Site-wide: 26,272
  • In bioinformatics: 3,069
• Year to date:
  • Site-wide: 11,239
• Since beginning of last month:
  • Site-wide: 18,099

Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide

• Downloaded 845 times
• Download rankings, all-time:
  • Site-wide: 26,511
  • In genomics: 2,473
• Year to date:
  • Site-wide: 64,637
• Since beginning of last month:
  • Site-wide: 105,138

Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

• Downloaded 822 times
• Download rankings, all-time:
  • Site-wide: 27,528
  • In genetics: 1,338
• Year to date:
  • Site-wide: 128,529
• Since beginning of last month:
  • Site-wide: 122,782

Assessing digital phenotyping to enhance genetic studies of human diseases

• Downloaded 740 times
• Download rankings, all-time:
  • Site-wide: 31,892
  • In genetics: 1,550
• Year to date:
  • Site-wide: 106,234
• Since beginning of last month:
  • Site-wide: 71,685

Integration of rare large-effect expression variants improves polygenic risk prediction

• Downloaded 685 times
• Download rankings, all-time:
  • Site-wide: 35,471
  • In genetic and genomic medicine: 112
• Year to date:
  • Site-wide: 6,801
• Since beginning of last month:
  • Site-wide: 12,905

Survival Analysis on Rare Events Using Group-Regularized Multi-Response Cox Regression

• Downloaded 623 times
• Download rankings, all-time:
  • Site-wide: 40,124
  • In bioinformatics: 4,348
• Year to date:
  • Site-wide: 15,367
• Since beginning of last month:
  • Site-wide: 16,559

Constraint-based analysis for causal discovery in population-based biobanks

• Downloaded 601 times
• Download rankings, all-time:
  • Site-wide: 41,994
  • In genetics: 1,994
• Year to date:
  • Site-wide: 73,047
• Since beginning of last month:
  • Site-wide: 87,305

Pervasive additive and non-additive effects within the HLA region contribute to disease risk in the UK Biobank

• Downloaded 452 times
• Download rankings, all-time:
  • Site-wide: 58,627
  • In genetics: 2,729
• Year to date:
  • Site-wide: 22,392
• Since beginning of last month:
  • Site-wide: 40,510

High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease.

• Downloaded 419 times
• Download rankings, all-time:
  • Site-wide: 63,409
  • In cardiovascular medicine: 92
• Year to date:
  • Site-wide: 25,754
• Since beginning of last month:
  • Site-wide: 19,129

Combining clinical and polygenic risk improves stroke prediction among individuals with atrial fibrillation

• Downloaded 388 times
• Download rankings, all-time:
  • Site-wide: 68,307
  • In cardiovascular medicine: 102
• Year to date:
  • Site-wide: 35,576
• Since beginning of last month:
  • Site-wide: 26,647

Reported CCR5-∆32 deviation from Hardy-Weinberg equilibrium is explained by poor genotyping of rs62625034

• Downloaded 302 times
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  • Site-wide: 84,270
  • In genetics: 3,815
• Year to date:
  • Site-wide: 108,659
• Since beginning of last month:
  • Site-wide: 93,962

A phenome-wide association study of four syndromic genes reveals pleiotropic effects of common and rare variants in the general population

• Downloaded 292 times
• Download rankings, all-time:
  • Site-wide: 86,369
  • In genetic and genomic medicine: 314
• Year to date:
  • Site-wide: 76,294
• Since beginning of last month:
  • Site-wide: 61,402

LPA and APOE are associated with statin selection in the UK Biobank

• Downloaded 283 times
• Download rankings, all-time:
  • Site-wide: 88,332
  • In genetics: 3,996
• Year to date:
  • Site-wide: 43,972
• Since beginning of last month:
  • Site-wide: 46,628

Fast Numerical Optimization for Genome Sequencing Data in Population Biobanks

• Downloaded 223 times
• Download rankings, all-time:
  • Site-wide: 101,277
  • In bioinformatics: 8,679
• Year to date:
  • Site-wide: 8,701
• Since beginning of last month:
  • Site-wide: 18,169