Author: andrea ganna

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Preprints

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

• Downloaded 24,382 times
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  • Site-wide: 273
  • In genomics: 10
• Year to date:
  • Site-wide: 2,339
• Since beginning of last month:
  • Site-wide: 2,732

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

• Downloaded 3,367 times
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  • Site-wide: 3,514
  • In genetic and genomic medicine: 11
• Year to date:
  • Site-wide: 978
• Since beginning of last month:
  • Site-wide: 1,043

Genetic analyses identify widespread sex-differential participation bias

• Downloaded 3,201 times
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  • Site-wide: 3,787
  • In genetics: 158
• Year to date:
  • Site-wide: 6,717
• Since beginning of last month:
  • Site-wide: 5,042

The impact of rare variation on gene expression across tissues

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  • Site-wide: 4,087
  • In genomics: 466
• Year to date:
  • Site-wide: 62,357
• Since beginning of last month:
  • Site-wide: 43,451

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

• Downloaded 3,009 times
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  • Site-wide: 4,110
  • In bioinformatics: 424
• Year to date:
  • Site-wide: 42,025
• Since beginning of last month:
  • Site-wide: 56,567

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

• Downloaded 2,925 times
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  • Site-wide: 4,283
  • In evolutionary biology: 90
• Year to date:
  • Site-wide: 64,212
• Since beginning of last month:
  • Site-wide: 74,433

Mapping the human genetic architecture of COVID-19 by worldwide meta-analysis

• Downloaded 2,782 times
• Download rankings, all-time:
  • Site-wide: 4,593
  • In genetic and genomic medicine: 14
• Year to date:
  • Site-wide: 329
• Since beginning of last month:
  • Site-wide: 109

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

• Downloaded 2,489 times
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  • Site-wide: 5,427
  • In genetics: 249
• Year to date:
  • Site-wide: 15,872
• Since beginning of last month:
  • Site-wide: 18,322

A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2

• Downloaded 2,440 times
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  • Site-wide: 5,596
  • In genomics: 639
• Year to date:
  • Site-wide: 378
• Since beginning of last month:
  • Site-wide: 204

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

• Downloaded 2,301 times
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  • Site-wide: 6,095
  • In genetics: 287
• Year to date:
  • Site-wide: 107,941
• Since beginning of last month:
  • Site-wide: 92,554

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

• Downloaded 2,092 times
• Download rankings, all-time:
  • Site-wide: 6,986
  • In genomics: 770
• Year to date:
  • Site-wide: 126,444
• Since beginning of last month:
  • Site-wide: 114,493

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

• Downloaded 1,532 times
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  • Site-wide: 11,120
  • In genetics: 533
• Year to date:
  • Site-wide: 115,353
• Since beginning of last month:
  • Site-wide: 118,753

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

• Downloaded 1,099 times
• Download rankings, all-time:
  • Site-wide: 18,279
  • In genomics: 1,857
• Year to date:
  • Site-wide: 27,033
• Since beginning of last month:
  • Site-wide: 40,056

Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

• Downloaded 1,089 times
• Download rankings, all-time:
  • Site-wide: 18,533
  • In genetic and genomic medicine: 59
• Year to date:
  • Site-wide: 15,306
• Since beginning of last month:
  • Site-wide: 15,704

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

• Downloaded 1,024 times
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  • Site-wide: 20,283
  • In genetics: 975
• Year to date:
  • Site-wide: 71,239
• Since beginning of last month:
  • Site-wide: 98,392

Fast estimation of genetic correlation for Biobank-scale data

• Downloaded 887 times
• Download rankings, all-time:
  • Site-wide: 25,014
  • In bioinformatics: 2,933
• Year to date:
  • Site-wide: 30,583
• Since beginning of last month:
  • Site-wide: 24,162

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

• Downloaded 813 times
• Download rankings, all-time:
  • Site-wide: 28,198
  • In genetic and genomic medicine: 88
• Year to date:
  • Site-wide: 5,548
• Since beginning of last month:
  • Site-wide: 7,234

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

• Downloaded 740 times
• Download rankings, all-time:
  • Site-wide: 32,174
  • In genomics: 2,853
• Year to date:
  • Site-wide: 116,802
• Since beginning of last month:
  • Site-wide: 130,641

Findings and insights from the genetic investigation of age of first reported occurrence for complex disorders in the UK Biobank and FinnGen

• Downloaded 576 times
• Download rankings, all-time:
  • Site-wide: 44,594
  • In genetic and genomic medicine: 137
• Year to date:
  • Site-wide: 12,697
• Since beginning of last month:
  • Site-wide: 18,468

Genetically independent phenotype analysis identifies LPA and VCAM1 as drug targets for human ageing

• Downloaded 471 times
• Download rankings, all-time:
  • Site-wide: 56,517
  • In genomics: 4,257
• Year to date:
  • Site-wide: 3,240
• Since beginning of last month:
  • Site-wide: 34,793

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

• Downloaded 411 times
• Download rankings, all-time:
  • Site-wide: 65,095
  • In genetic and genomic medicine: 207
• Year to date:
  • Site-wide: 3,905
• Since beginning of last month:
  • Site-wide: 1,141

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

• Downloaded 350 times
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  • Site-wide: 75,429
  • In bioinformatics: 7,008
• Year to date:
  • Site-wide: 79,580
• Since beginning of last month:
  • Site-wide: 66,502

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

• Downloaded 341 times
• Download rankings, all-time:
  • Site-wide: 77,096
  • In genetics: 3,515
• Year to date:
  • Site-wide: 110,431
• Since beginning of last month:
  • Site-wide: 81,157

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

• Downloaded 337 times
• Download rankings, all-time:
  • Site-wide: 77,909
  • In bioinformatics: 7,177
• Year to date:
  • Site-wide: 113,492
• Since beginning of last month:
  • Site-wide: 96,438

Clinical conditions and their impact on utility of genetic scores for prediction of acute coronary syndrome

• Downloaded 206 times
• Download rankings, all-time:
  • Site-wide: 106,026
  • In cardiovascular medicine: 218
• Year to date:
  • Site-wide: 67,078
• Since beginning of last month:
  • Site-wide: 48,541