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Author: Daniel G. MacArthur

Rankings

  • All-time downloads: 65,789 (rank: 545 out of 382,525)
  • Categories:
    • bioinformatics: 2,472 (rank: 4,243 (tie) out of 32,764)
    • genetics: 8,830 (rank: 1,712 out of 35,290)
    • genomics: 54,487 (rank: 117 out of 40,770)

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Preprints

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

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    • In genomics: 8 out of 5,694
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An open resource of structural variation for medical and population genetics

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    • In genomics: 47 out of 5,694
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    • Site-wide: 550 out of 89,238
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Scaling accurate genetic variant discovery to tens of thousands of samples

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    • In genomics: 115 out of 5,694
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Evaluating potential drug targets through human loss-of-function genetic variation

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    • In genomics: 224 out of 5,694
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Transcript expression-aware annotation improves rare variant discovery and interpretation

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    • In genomics: 307 out of 5,694
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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

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    • Site-wide: 10,120 out of 89,238

STRetch: detecting and discovering pathogenic short tandem repeats expansions

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

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    • Site-wide: 10,086 out of 89,238

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

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Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

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    • In genomics: 748 out of 5,694
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    • Site-wide: 10,943 out of 89,238

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

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    • In genetics: 375 out of 4,618
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    • Site-wide: 76,514 out of 89,238
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    • Site-wide: 67,564 out of 89,238

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

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    • In genetics: 487 out of 4,618
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Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

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    • In genomics: 1,158 out of 5,694
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    • Site-wide: 14,964 out of 89,238

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

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    • Site-wide: 61,401 out of 89,238
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    • Site-wide: 49,315 out of 89,238

The Genetic Landscape of Diamond-Blackfan Anemia

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    • In genetics: 714 out of 4,618
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    • Site-wide: 46,322 out of 89,238
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    • Site-wide: 45,630 out of 89,238

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.

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    • In genomics: 1,863 out of 5,694
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    • Site-wide: 37,862 out of 89,238

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.

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    • In genetics: 1,233 out of 4,618
  • Year to date:
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    • Site-wide: 17,852 out of 89,238

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

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    • In genomics: 2,534 out of 5,694
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