Author: Andrea Ganna

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Preprints

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

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  • Site-wide: 122 out of 83,820
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  • Site-wide: 141 out of 83,820

The impact of rare variation on gene expression across tissues

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  • In genomics: 363 out of 5,409
• Year to date:
  • Site-wide: 38,217 out of 83,820
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  • Site-wide: 42,179 out of 83,820

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

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  • In bioinformatics: 351 out of 8,035
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  • Site-wide: 39,825 out of 83,820

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: 73 out of 5,209
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  • Site-wide: 16,753 out of 83,820

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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  • In genetics: 220 out of 4,399
• Year to date:
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  • Site-wide: 65,301 out of 83,820

Genetic analyses identify widespread sex-differential participation bias

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  • In genetics: 241 out of 4,399
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  • Site-wide: 364 out of 83,820
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  • Site-wide: 636 out of 83,820

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

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  • In genomics: 612 out of 5,409
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  • Site-wide: 60,285 out of 83,820

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

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  • In genetics: 261 out of 4,399
• Year to date:
  • Site-wide: 18,242 out of 83,820
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  • Site-wide: 9,118 out of 83,820

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

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  • Site-wide: 5,597 out of 83,820
  • In genetics: 423 out of 4,399
• Year to date:
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  • Site-wide: 75,021 out of 83,820

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

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  • In genetics: 797 out of 4,399
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  • Site-wide: 51,499 out of 83,820

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

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  • In genomics: 2,272 out of 5,409
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  • Site-wide: 48,655 out of 83,820

Genome-wide association study of school grades identifies a genetic overlap between language ability, psychopathology and creativity

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  • In genomics: 2,451 out of 5,409
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  • Site-wide: 743 out of 83,820

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

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  • In genetics: 2,898 out of 4,399
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  • Site-wide: 76,243 out of 83,820

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

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  • In bioinformatics: 5,945 out of 8,035
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Prediction performance of a cardiovascular risk assessment tool using Stanford EHR data repository

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  • In bioinformatics: 6,298 out of 8,035
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  • Site-wide: 49,068 out of 83,820