Author: Andrea Ganna

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Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

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The impact of rare variation on gene expression across tissues

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Large-scale non-targeted metabolomic profiling in three human population-based studies

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  • In bioinformatics: 395 out of 9,264
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Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

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  • In evolutionary biology: 78 out of 6,020
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Genetic analyses identify widespread sex-differential participation bias

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  • In genetics: 183 out of 5,022
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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  • In genetics: 251 out of 5,022
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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

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

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  • In genetics: 477 out of 5,022
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Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations

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  • In genetics: 910 out of 5,022
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Genome-wide association study of school grades identifies a genetic overlap between language ability, psychopathology and creativity

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Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

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Development and validation of a next-gen health stratification engine to determine risk for multiple cardiovascular diseases

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Prediction performance of a cardiovascular risk assessment tool using Stanford EHR data repository

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