Author: Manuel A. Rivas

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Preprints

Significant Sparse Polygenic Risk Scores across 428 traits in UK Biobank

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Genetics of 38 blood and urine biomarkers in the UK Biobank

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  • Site-wide: 2,508
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  • Site-wide: 2,982

Transcriptome-wide association studies: opportunities and challenges

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

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

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  • Site-wide: 3,157
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Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study

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Bayesian model comparison for rare variant association studies

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A global atlas of genetic associations of 220 deep phenotypes

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

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

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

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

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Phenome-wide burden of copy number variation in UK Biobank

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Polygenic risk modeling with latent trait-related genetic components

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  • In genomics: 1,183
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  • Site-wide: 18,180
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Fast Lasso method for Large-scale and Ultrahigh-dimensional Cox Model with applications to UK Biobank

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

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

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FasTag: automatic text classification of unstructured medical narratives

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Sex-specific genetic effects across biomarkers

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  • Site-wide: 15,486
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Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

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  • Site-wide: 18,626
  • In bioinformatics: 2,157
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  • Site-wide: 71,391

Dopaminergic stimulants and risk of Parkinson's disease

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  • Site-wide: 19,436
  • In pharmacology and therapeutics: 30
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Large-scale phenome-wide association study of PCSK9 loss-of-function variants demonstrates protection against ischemic stroke

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  • Site-wide: 19,462
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Large-Scale Sparse Regression for Multiple Responses with Applications to UK Biobank

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  • Site-wide: 15,889
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Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

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Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

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  • Site-wide: 29,610
  • In genetic and genomic medicine: 115
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  • Site-wide: 3,770
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  • Site-wide: 14,551

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

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  • Site-wide: 29,878
  • In genetic and genomic medicine: 118
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  • Site-wide: 10,050
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  • Site-wide: 45,712

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

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  • Site-wide: 30,185
  • In genomics: 2,669
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  • Site-wide: 103,685
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  • Site-wide: 72,245

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

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  • Site-wide: 31,847
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  • Site-wide: 150,589
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Survival Analysis on Rare Events Using Group-Regularized Multi-Response Cox Regression

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  • Site-wide: 35,634
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  • Site-wide: 20,814

Assessing digital phenotyping to enhance genetic studies of human diseases

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  • Site-wide: 35,715
  • In genetics: 1,627
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  • Site-wide: 118,625
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  • Site-wide: 88,534

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

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  • Site-wide: 44,827
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  • Site-wide: 82,046
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  • Site-wide: 83,866

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

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  • Site-wide: 60,872
  • In genetics: 2,689
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  • Site-wide: 40,199
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Combining clinical and polygenic risk improves stroke prediction among individuals with atrial fibrillation

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  • Site-wide: 61,566
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  • Site-wide: 54,945

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

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  • Site-wide: 61,755
  • In cardiovascular medicine: 98
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  • Site-wide: 55,365

Fast Numerical Optimization for Genome Sequencing Data in Population Biobanks

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  • Site-wide: 89,312
  • In bioinformatics: 7,994
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  • Site-wide: 15,037
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  • Site-wide: 4,818

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

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  • Site-wide: 91,373
  • In genetics: 3,954
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  • Site-wide: 52,131

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

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  • Site-wide: 91,829
  • In genetic and genomic medicine: 408
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  • Site-wide: 108,958

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

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  • Site-wide: 95,542
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Bayesian mixture model for clustering rare-variant effects in human genetic studies

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  • Site-wide: 154,286
  • In genetics: 5,948
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  • Site-wide: 38,292