Author: Timothy Poterba

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Preprints

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

• Downloaded 26,416 times
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  • Site-wide: 416
  • In genomics: 12
• Year to date:
  • Site-wide: 2,270
• Since beginning of last month:
  • Site-wide: 3,176

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

• Downloaded 12,760 times
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  • Site-wide: 1,010
  • In genetics: 19
• Year to date:
  • Site-wide: 8,117
• Since beginning of last month:
  • Site-wide: 10,819

Common risk variants identified in autism spectrum disorder

• Downloaded 9,324 times
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  • Site-wide: 1,503
  • In genetics: 31
• Year to date:
  • Site-wide: 10,365
• Since beginning of last month:
  • Site-wide: 20,279

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

• Downloaded 9,281 times
• Download rankings, all-time:
  • Site-wide: 1,516
  • In genetic and genomic medicine: 8
• Year to date:
  • Site-wide: 2,721
• Since beginning of last month:
  • Site-wide: 1,210

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

• Downloaded 6,479 times
• Download rankings, all-time:
  • Site-wide: 2,457
  • In genetic and genomic medicine: 12
• Year to date:
  • Site-wide: 6,077
• Since beginning of last month:
  • Site-wide: 13,754

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

• Downloaded 4,518 times
• Download rankings, all-time:
  • Site-wide: 4,015
  • In genetics: 123
• Year to date:
  • Site-wide: 808
• Since beginning of last month:
  • Site-wide: 1,041

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 4,140 times
• Download rankings, all-time:
  • Site-wide: 4,556
  • In genomics: 416
• Year to date:
  • Site-wide: 175,613
• Since beginning of last month:
  • Site-wide: 119,701

Bayesian model comparison for rare variant association studies

• Downloaded 3,109 times
• Download rankings, all-time:
  • Site-wide: 6,958
  • In genetics: 250
• Year to date:
  • Site-wide: 99,266
• Since beginning of last month:
  • Site-wide: 26,272

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

• Downloaded 2,468 times
• Download rankings, all-time:
  • Site-wide: 9,778
  • In genetics: 371
• Year to date:
  • Site-wide: 37,415
• Since beginning of last month:
  • Site-wide: 149,154

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

• Downloaded 2,177 times
• Download rankings, all-time:
  • Site-wide: 11,846
  • In genomics: 1,068
• Year to date:
  • Site-wide: 176,022
• Since beginning of last month:
  • Site-wide: 200,118