Author: Manuel A. Rivas

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

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Genetics of 38 blood and urine biomarkers in the UK Biobank

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Transcriptome-wide association studies: opportunities and challenges

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

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A Fast and Flexible Algorithm for Solving the Lasso in Large-scale and Ultrahigh-dimensional Problems

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Bayesian model comparison for rare variant association studies of multiple phenotypes

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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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Landscape of X chromosome inactivation across human tissues

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

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

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

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Phenome-wide burden of copy number variation in UK Biobank

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

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Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

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

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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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FasTag: automatic text classification of unstructured medical narratives

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

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

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

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

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Sex-specific genetic effects across biomarkers

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Polygenic risk modeling with latent trait-related genetic components

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Assessing digital phenotyping to enhance genetic studies of human diseases

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Medical relevance of common protein-altering variants in GPCR genes across 337,205 individuals in the UK Biobank study

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biMM: Efficient estimation of genetic variances and covariances for cohorts with high-dimensional phenotype measurements

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

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

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Differential response trajectories to acute exercise in blood and muscle

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