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Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 60,222 bioRxiv papers from 267,720 authors.

Author: Daniel G. MacArthur

  • Most recently observed institution: Broad Institute of MIT and Harvard

Rankings

  • All-time downloads: 107,968 (rank: 55 out of 267,720)
  • Categories:
    • genetics: 15,214 (rank: 565 (tie) out of 27,065)
    • genomics: 92,754 (rank: 15 out of 31,247)

Downloads per author, site-wide

Preprints

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

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  • Downloaded 21,389 times
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    • Site-wide: 24 out of 60,222
    • In genomics: 6 out of 4,168
  • Year to date:
    • Site-wide: 3,370 out of 60,222
  • Since beginning of last month:
    • Site-wide: 3,787 out of 60,222

Quantitative analysis of population-scale family trees using millions of relatives

genomics more details view paper
  • Downloaded 18,365 times
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    • Site-wide: 31 out of 60,222
    • In genomics: 8 out of 4,168
  • Year to date:
    • Site-wide: 2,060 out of 60,222
  • Since beginning of last month:
    • Site-wide: 5,717 out of 60,222

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

genomics more details view paper
  • Downloaded 11,616 times
  • Download rankings, all-time:
    • Site-wide: 78 out of 60,222
    • In genomics: 22 out of 4,168
  • Year to date:
    • Site-wide: 10 out of 60,222
  • Since beginning of last month:
    • Site-wide: 30 out of 60,222

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,751 times
  • Download rankings, all-time:
    • Site-wide: 223 out of 60,222
    • In genetics: 24 out of 3,432
  • Year to date:
    • Site-wide: 15,717 out of 60,222
  • Since beginning of last month:
    • Site-wide: 37,049 out of 60,222

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 6,410 times
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    • Site-wide: 244 out of 60,222
    • In genomics: 71 out of 4,168
  • Year to date:
    • Site-wide: 39 out of 60,222
  • Since beginning of last month:
    • Site-wide: 213 out of 60,222

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,079 times
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    • Site-wide: 374 out of 60,222
    • In genomics: 98 out of 4,168
  • Year to date:
    • Site-wide: 11,712 out of 60,222
  • Since beginning of last month:
    • Site-wide: 14,404 out of 60,222

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
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    • In genomics: 101 out of 4,168
  • Year to date:
    • Site-wide: 909 out of 60,222
  • Since beginning of last month:
    • Site-wide: 1,166 out of 60,222

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,134 times
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    • In genomics: 151 out of 4,168
  • Year to date:
    • Site-wide: 32,009 out of 60,222
  • Since beginning of last month:
    • Site-wide: 28,098 out of 60,222

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 4,037 times
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    • Site-wide: 595 out of 60,222
    • In genomics: 160 out of 4,168
  • Year to date:
    • Site-wide: 829 out of 60,222
  • Since beginning of last month:
    • Site-wide: 1,582 out of 60,222

Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 3,141 times
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    • In genomics: 241 out of 4,168
  • Year to date:
    • Site-wide: 140 out of 60,222
  • Since beginning of last month:
    • Site-wide: 1,145 out of 60,222

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 2,120 times
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    • In genomics: 427 out of 4,168
  • Year to date:
    • Site-wide: 298 out of 60,222
  • Since beginning of last month:
    • Site-wide: 1,003 out of 60,222

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

genomics more details view paper
  • Downloaded 2,041 times
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    • Site-wide: 2,068 out of 60,222
    • In genomics: 447 out of 4,168
  • Year to date:
    • Site-wide: 325 out of 60,222
  • Since beginning of last month:
    • Site-wide: 861 out of 60,222

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

genetics more details view paper
  • Downloaded 1,855 times
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    • Site-wide: 2,437 out of 60,222
    • In genetics: 232 out of 3,432
  • Year to date:
    • Site-wide: 48,324 out of 60,222
  • Since beginning of last month:
    • Site-wide: 54,428 out of 60,222

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,836 times
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    • Site-wide: 2,485 out of 60,222
    • In genomics: 512 out of 4,168
  • Year to date:
    • Site-wide: 35,157 out of 60,222
  • Since beginning of last month:
    • Site-wide: 42,045 out of 60,222

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

genetics more details view paper
  • Downloaded 1,549 times
  • Download rankings, all-time:
    • Site-wide: 3,299 out of 60,222
    • In genetics: 295 out of 3,432
  • Year to date:
    • Site-wide: 31,818 out of 60,222
  • Since beginning of last month:
    • Site-wide: 32,862 out of 60,222

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

genetics more details view paper
  • Downloaded 1,416 times
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    • Site-wide: 3,860 out of 60,222
    • In genetics: 341 out of 3,432
  • Year to date:
    • Site-wide: 35,470 out of 60,222
  • Since beginning of last month:
    • Site-wide: 38,624 out of 60,222

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

genetics more details view paper
  • Downloaded 1,298 times
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    • Site-wide: 4,459 out of 60,222
    • In genetics: 374 out of 3,432
  • Year to date:
    • Site-wide: 35,800 out of 60,222
  • Since beginning of last month:
    • Site-wide: 40,497 out of 60,222

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

genomics more details view paper
  • Downloaded 1,171 times
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    • Site-wide: 5,241 out of 60,222
    • In genomics: 902 out of 4,168
  • Year to date:
    • Site-wide: 43,617 out of 60,222
  • Since beginning of last month:
    • Site-wide: 52,916 out of 60,222

Determining the impact of putative loss-of-function variants in protein-coding genes

genomics more details view paper
  • Downloaded 1,071 times
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    • Site-wide: 6,127 out of 60,222
    • In genomics: 1,020 out of 4,168
  • Year to date:
    • Site-wide: 17,683 out of 60,222
  • Since beginning of last month:
    • Site-wide: 19,184 out of 60,222

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
  • Downloaded 1,028 times
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    • Site-wide: 6,529 out of 60,222
    • In genomics: 1,070 out of 4,168
  • Year to date:
    • Site-wide: 48,185 out of 60,222
  • Since beginning of last month:
    • Site-wide: 56,372 out of 60,222

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
  • Downloaded 971 times
  • Download rankings, all-time:
    • Site-wide: 7,145 out of 60,222
    • In genomics: 1,153 out of 4,168
  • Year to date:
    • Site-wide: 45,457 out of 60,222
  • Since beginning of last month:
    • Site-wide: 55,316 out of 60,222

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

genomics more details view paper
  • Downloaded 948 times
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    • Site-wide: 7,395 out of 60,222
    • In genomics: 1,175 out of 4,168
  • Year to date:
    • Site-wide: 1,414 out of 60,222
  • Since beginning of last month:
    • Site-wide: None out of 60,222

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

genomics more details view paper
  • Downloaded 946 times
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    • Site-wide: 7,425 out of 60,222
    • In genomics: 1,179 out of 4,168
  • Year to date:
    • Site-wide: 1,421 out of 60,222
  • Since beginning of last month:
    • Site-wide: 9,132 out of 60,222

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

genetics more details view paper
  • Downloaded 935 times
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    • Site-wide: 7,565 out of 60,222
    • In genetics: 597 out of 3,432
  • Year to date:
    • Site-wide: 23,683 out of 60,222
  • Since beginning of last month:
    • Site-wide: 24,033 out of 60,222

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 921 times
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    • Site-wide: 7,767 out of 60,222
    • In genetics: 608 out of 3,432
  • Year to date:
    • Site-wide: 17,900 out of 60,222
  • Since beginning of last month:
    • Site-wide: 49,678 out of 60,222

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

genomics more details view paper
  • Downloaded 879 times
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    • Site-wide: 8,362 out of 60,222
    • In genomics: 1,285 out of 4,168
  • Year to date:
    • Site-wide: 1,617 out of 60,222
  • Since beginning of last month:
    • Site-wide: 2,355 out of 60,222

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

genomics more details view paper
  • Downloaded 571 times
  • Download rankings, all-time:
    • Site-wide: 15,530 out of 60,222
    • In genomics: 1,978 out of 4,168
  • Year to date:
    • Site-wide: 25,910 out of 60,222
  • Since beginning of last month:
    • Site-wide: 44,884 out of 60,222

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

genetics more details view paper
  • Downloaded 489 times
  • Download rankings, all-time:
    • Site-wide: 18,951 out of 60,222
    • In genetics: 1,282 out of 3,432
  • Year to date:
    • Site-wide: 4,460 out of 60,222
  • Since beginning of last month:
    • Site-wide: 8,216 out of 60,222

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