Author: Grace Tiao

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Preprints

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

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  • Site-wide: 412
  • In genomics: 12
• Year to date:
  • Site-wide: 4,301
• Since beginning of last month:
  • Site-wide: 5,808

Analysis of protein-coding genetic variation in 60,706 humans

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  • Site-wide: 496
  • In genomics: 16
• Year to date:
  • Site-wide: 39,199
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  • Site-wide: 47,805

An open resource of structural variation for medical and population genetics

• Downloaded 11,676 times
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  • Site-wide: 1,114
  • In genomics: 67
• Year to date:
  • Site-wide: 22,071
• Since beginning of last month:
  • Site-wide: 12,815

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

• Downloaded 8,928 times
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  • Site-wide: 1,556
  • In genetic and genomic medicine: 9
• Year to date:
  • Site-wide: 701
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  • Site-wide: 817

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

• Downloaded 6,394 times
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  • Site-wide: 2,443
  • In genetic and genomic medicine: 12
• Year to date:
  • Site-wide: 1,095
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  • Site-wide: 9,290

Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes

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  • Site-wide: 2,727
  • In genomics: 208
• Year to date:
  • Site-wide: 46,196
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  • Site-wide: 44,321

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

• Downloaded 5,771 times
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  • Site-wide: 2,799
  • In genomics: 227
• Year to date:
  • Site-wide: 38,438
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  • Site-wide: 26,736

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

• Downloaded 4,102 times
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  • Site-wide: 4,492
  • In genetics: 258
• Year to date:
  • Site-wide: 399
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  • Site-wide: 135

Large-Scale Uniform Analysis of Cancer Whole Genomes in Multiple Computing Environments

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  • Site-wide: 8,622
  • In genomics: 817
• Year to date:
  • Site-wide: 87,091
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  • Site-wide: 75,036

Mitochondrial DNA variation across 56,434 individuals in gnomAD

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  • Site-wide: 21,014
  • In genomics: 1,864
• Year to date:
  • Site-wide: 10,730
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  • Site-wide: 36,236

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

• Downloaded 770 times
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  • Site-wide: 56,961
  • In genetics: 2,181
• Year to date:
  • Site-wide: 200,816
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  • Site-wide: 131,368