Author: Timothy Poterba

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Preprints

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

• Downloaded 24,822 times
• Download rankings, all-time:
  • Site-wide: 297
  • In genomics: 11
• Year to date:
  • Site-wide: 2,625
• Since beginning of last month:
  • Site-wide: 3,261

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

• Downloaded 11,597 times
• Download rankings, all-time:
  • Site-wide: 754
  • In genetics: 18
• Year to date:
  • Site-wide: 3,422
• Since beginning of last month:
  • Site-wide: 4,600

Common risk variants identified in autism spectrum disorder

• Downloaded 8,452 times
• Download rankings, all-time:
  • Site-wide: 1,139
  • In genetics: 29
• Year to date:
  • Site-wide: 2,477
• Since beginning of last month:
  • Site-wide: 2,338

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

• Downloaded 4,512 times
• Download rankings, all-time:
  • Site-wide: 2,641
  • In genetic and genomic medicine: 11
• Year to date:
  • Site-wide: 938
• Since beginning of last month:
  • Site-wide: 1,037

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 3,919 times
• Download rankings, all-time:
  • Site-wide: 3,246
  • In genomics: 342
• Year to date:
  • Site-wide: 24,400
• Since beginning of last month:
  • Site-wide: 26,613

Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes

• Downloaded 2,482 times
• Download rankings, all-time:
  • Site-wide: 6,232
  • In genetic and genomic medicine: 25
• Year to date:
  • Site-wide: 830
• Since beginning of last month:
  • Site-wide: 121

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

• Downloaded 2,328 times
• Download rankings, all-time:
  • Site-wide: 6,834
  • In genetics: 306
• Year to date:
  • Site-wide: 103,386
• Since beginning of last month:
  • Site-wide: 74,095

Bayesian model comparison for rare variant association studies

• Downloaded 2,281 times
• Download rankings, all-time:
  • Site-wide: 7,031
  • In genetics: 319
• Year to date:
  • Site-wide: 66,145
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 2,103 times
• Download rankings, all-time:
  • Site-wide: 7,919
  • In genomics: 835
• Year to date:
  • Site-wide: 137,567
• Since beginning of last month:
  • Site-wide: 143,079