Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,482 bioRxiv papers from 277,419 authors.

Author: Daniel G. MacArthur

  • Most recently observed institution: Analytic and Translational Genetics Unit, Massachusetts General Hospital

Rankings

  • All-time downloads: 110,446 (rank: 55 out of 277,419)
  • Categories:
    • genetics: 15,304 (rank: 570 out of 27,685)
    • genomics: 95,142 (rank: 16 out of 31,917)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,430 times
  • Download rankings, all-time:
    • Site-wide: 24 out of 62,482
    • In genomics: 6 out of 4,297
  • Year to date:
    • Site-wide: 3,393 out of 62,482
  • Since beginning of last month:
    • Site-wide: 4,837 out of 62,482

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

genomics more details view paper
  • Downloaded 18,422 times
  • Download rankings, all-time:
    • Site-wide: 35 out of 62,482
    • In genomics: 9 out of 4,297
  • Year to date:
    • Site-wide: 2,053 out of 62,482
  • Since beginning of last month:
    • Site-wide: 5,295 out of 62,482

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 12,643 times
  • Download rankings, all-time:
    • Site-wide: 69 out of 62,482
    • In genomics: 20 out of 4,297
  • Year to date:
    • Site-wide: 9 out of 62,482
  • Since beginning of last month:
    • Site-wide: 26 out of 62,482

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,771 times
  • Download rankings, all-time:
    • Site-wide: 232 out of 62,482
    • In genetics: 24 out of 3,548
  • Year to date:
    • Site-wide: 15,638 out of 62,482
  • Since beginning of last month:
    • Site-wide: 20,728 out of 62,482

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 6,715 times
  • Download rankings, all-time:
    • Site-wide: 239 out of 62,482
    • In genomics: 68 out of 4,297
  • Year to date:
    • Site-wide: 44 out of 62,482
  • Since beginning of last month:
    • Site-wide: 238 out of 62,482

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 5,116 times
  • Download rankings, all-time:
    • Site-wide: 386 out of 62,482
    • In genomics: 101 out of 4,297
  • Year to date:
    • Site-wide: 878 out of 62,482
  • Since beginning of last month:
    • Site-wide: 1,888 out of 62,482

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,093 times
  • Download rankings, all-time:
    • Site-wide: 388 out of 62,482
    • In genomics: 102 out of 4,297
  • Year to date:
    • Site-wide: 12,223 out of 62,482
  • Since beginning of last month:
    • Site-wide: 29,453 out of 62,482

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,148 times
  • Download rankings, all-time:
    • Site-wide: 583 out of 62,482
    • In genomics: 154 out of 4,297
  • Year to date:
    • Site-wide: 31,730 out of 62,482
  • Since beginning of last month:
    • Site-wide: 19,842 out of 62,482

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 4,140 times
  • Download rankings, all-time:
    • Site-wide: 586 out of 62,482
    • In genomics: 155 out of 4,297
  • Year to date:
    • Site-wide: 823 out of 62,482
  • Since beginning of last month:
    • Site-wide: 1,496 out of 62,482

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

genomics more details view paper
  • Downloaded 3,256 times
  • Download rankings, all-time:
    • Site-wide: 916 out of 62,482
    • In genomics: 234 out of 4,297
  • Year to date:
    • Site-wide: 152 out of 62,482
  • Since beginning of last month:
    • Site-wide: 1,315 out of 62,482

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 2,227 times
  • Download rankings, all-time:
    • Site-wide: 1,830 out of 62,482
    • In genomics: 408 out of 4,297
  • Year to date:
    • Site-wide: 314 out of 62,482
  • Since beginning of last month:
    • Site-wide: 1,108 out of 62,482

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

genomics more details view paper
  • Downloaded 2,106 times
  • Download rankings, all-time:
    • Site-wide: 2,029 out of 62,482
    • In genomics: 440 out of 4,297
  • Year to date:
    • Site-wide: 350 out of 62,482
  • Since beginning of last month:
    • Site-wide: 2,952 out of 62,482

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

genetics more details view paper
  • Downloaded 1,858 times
  • Download rankings, all-time:
    • Site-wide: 2,535 out of 62,482
    • In genetics: 235 out of 3,548
  • Year to date:
    • Site-wide: 50,582 out of 62,482
  • Since beginning of last month:
    • Site-wide: 58,085 out of 62,482

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,841 times
  • Download rankings, all-time:
    • Site-wide: 2,572 out of 62,482
    • In genomics: 524 out of 4,297
  • Year to date:
    • Site-wide: 36,913 out of 62,482
  • Since beginning of last month:
    • Site-wide: 53,127 out of 62,482

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

genetics more details view paper
  • Downloaded 1,558 times
  • Download rankings, all-time:
    • Site-wide: 3,387 out of 62,482
    • In genetics: 298 out of 3,548
  • Year to date:
    • Site-wide: 32,652 out of 62,482
  • Since beginning of last month:
    • Site-wide: 27,103 out of 62,482

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

genetics more details view paper
  • Downloaded 1,422 times
  • Download rankings, all-time:
    • Site-wide: 3,976 out of 62,482
    • In genetics: 347 out of 3,548
  • Year to date:
    • Site-wide: 36,935 out of 62,482
  • Since beginning of last month:
    • Site-wide: 52,037 out of 62,482

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

genetics more details view paper
  • Downloaded 1,301 times
  • Download rankings, all-time:
    • Site-wide: 4,584 out of 62,482
    • In genetics: 382 out of 3,548
  • Year to date:
    • Site-wide: 38,224 out of 62,482
  • Since beginning of last month:
    • Site-wide: 55,122 out of 62,482

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

genomics more details view paper
  • Downloaded 1,245 times
  • Download rankings, all-time:
    • Site-wide: 4,920 out of 62,482
    • In genomics: 856 out of 4,297
  • Year to date:
    • Site-wide: 992 out of 62,482
  • Since beginning of last month:
    • Site-wide: 2,339 out of 62,482

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

genomics more details view paper
  • Downloaded 1,177 times
  • Download rankings, all-time:
    • Site-wide: 5,392 out of 62,482
    • In genomics: 920 out of 4,297
  • Year to date:
    • Site-wide: 45,093 out of 62,482
  • Since beginning of last month:
    • Site-wide: 49,079 out of 62,482

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

genomics more details view paper
  • Downloaded 1,090 times
  • Download rankings, all-time:
    • Site-wide: 6,151 out of 62,482
    • In genomics: 1,025 out of 4,297
  • Year to date:
    • Site-wide: 17,449 out of 62,482
  • Since beginning of last month:
    • Site-wide: 16,791 out of 62,482

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

genomics more details view paper
  • Downloaded 1,032 times
  • Download rankings, all-time:
    • Site-wide: 6,727 out of 62,482
    • In genomics: 1,101 out of 4,297
  • Year to date:
    • Site-wide: 50,368 out of 62,482
  • Since beginning of last month:
    • Site-wide: 54,204 out of 62,482

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

genomics more details view paper
  • Downloaded 984 times
  • Download rankings, all-time:
    • Site-wide: 7,247 out of 62,482
    • In genomics: 1,156 out of 4,297
  • Year to date:
    • Site-wide: 1,498 out of 62,482
  • Since beginning of last month:
    • Site-wide: 7,646 out of 62,482

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

genomics more details view paper
  • Downloaded 975 times
  • Download rankings, all-time:
    • Site-wide: 7,336 out of 62,482
    • In genomics: 1,172 out of 4,297
  • Year to date:
    • Site-wide: 47,602 out of 62,482
  • Since beginning of last month:
    • Site-wide: 54,934 out of 62,482

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

genetics more details view paper
  • Downloaded 948 times
  • Download rankings, all-time:
    • Site-wide: 7,670 out of 62,482
    • In genetics: 595 out of 3,548
  • Year to date:
    • Site-wide: 24,020 out of 62,482
  • Since beginning of last month:
    • Site-wide: 22,378 out of 62,482

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 934 times
  • Download rankings, all-time:
    • Site-wide: 7,861 out of 62,482
    • In genetics: 613 out of 3,548
  • Year to date:
    • Site-wide: 18,277 out of 62,482
  • Since beginning of last month:
    • Site-wide: 34,148 out of 62,482

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

genomics more details view paper
  • Downloaded 921 times
  • Download rankings, all-time:
    • Site-wide: 8,065 out of 62,482
    • In genomics: 1,257 out of 4,297
  • Year to date:
    • Site-wide: 1,679 out of 62,482
  • Since beginning of last month:
    • Site-wide: 4,324 out of 62,482

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 581 times
  • Download rankings, all-time:
    • Site-wide: 15,744 out of 62,482
    • In genomics: 1,988 out of 4,297
  • Year to date:
    • Site-wide: 26,693 out of 62,482
  • Since beginning of last month:
    • Site-wide: 39,792 out of 62,482

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

genetics more details view paper
  • Downloaded 512 times
  • Download rankings, all-time:
    • Site-wide: 18,582 out of 62,482
    • In genetics: 1,250 out of 3,548
  • Year to date:
    • Site-wide: 4,692 out of 62,482
  • Since beginning of last month:
    • Site-wide: 7,129 out of 62,482

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News