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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 48,100 bioRxiv papers from 215,661 authors.

Author: Daniel G. MacArthur

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

Rankings

  • All-time downloads: 76,463 (rank: 75 out of 215,661)
  • Categories:
    • genetics: 13,460 (rank: 478 out of 21,890)
    • genomics: 63,003 (rank: 93 out of 25,614)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 17,911 times
  • Download rankings, all-time:
    • Site-wide: 27 out of 48,100
    • In genomics: 7 out of 3,527
  • Year to date:
    • Site-wide: 2,013 out of 48,100
  • Since beginning of last month:
    • Site-wide: None out of 48,100

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 6,647 times
  • Download rankings, all-time:
    • Site-wide: 171 out of 48,100
    • In genetics: 19 out of 2,855
  • Year to date:
    • Site-wide: 9,073 out of 48,100
  • Since beginning of last month:
    • Site-wide: 5,555 out of 48,100

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 6,140 times
  • Download rankings, all-time:
    • Site-wide: 197 out of 48,100
    • In genomics: 59 out of 3,527
  • Year to date:
    • Site-wide: 10 out of 48,100
  • Since beginning of last month:
    • Site-wide: 42 out of 48,100

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 4,934 times
  • Download rankings, all-time:
    • Site-wide: 295 out of 48,100
    • In genomics: 79 out of 3,527
  • Year to date:
    • Site-wide: 8,184 out of 48,100
  • Since beginning of last month:
    • Site-wide: 7,145 out of 48,100

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 4,274 times
  • Download rankings, all-time:
    • Site-wide: 386 out of 48,100
    • In genomics: 105 out of 3,527
  • Year to date:
    • Site-wide: 957 out of 48,100
  • Since beginning of last month:
    • Site-wide: 1,472 out of 48,100

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 4,135 times
  • Download rankings, all-time:
    • Site-wide: 416 out of 48,100
    • In genomics: 114 out of 3,527
  • Year to date:
    • Site-wide: 4,331 out of 48,100
  • Since beginning of last month:
    • Site-wide: 3,528 out of 48,100

Local genetic effects on gene expression across 44 human tissues

genomics more details view paper
  • Downloaded 4,057 times
  • Download rankings, all-time:
    • Site-wide: 433 out of 48,100
    • In genomics: 119 out of 3,527
  • Year to date:
    • Site-wide: 25,002 out of 48,100
  • Since beginning of last month:
    • Site-wide: 22,707 out of 48,100

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 3,642 times
  • Download rankings, all-time:
    • Site-wide: 549 out of 48,100
    • In genomics: 146 out of 3,527
  • Year to date:
    • Site-wide: 23 out of 48,100
  • Since beginning of last month:
    • Site-wide: 5 out of 48,100

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 3,345 times
  • Download rankings, all-time:
    • Site-wide: 633 out of 48,100
    • In genomics: 173 out of 3,527
  • Year to date:
    • Site-wide: 707 out of 48,100
  • Since beginning of last month:
    • Site-wide: 790 out of 48,100

Human knockouts in a cohort with a high rate of consanguinity

genomics more details view paper
  • Downloaded 2,282 times
  • Download rankings, all-time:
    • Site-wide: 1,279 out of 48,100
    • In genomics: 301 out of 3,527
  • Year to date:
    • Site-wide: 25,270 out of 48,100
  • Since beginning of last month:
    • Site-wide: 21,091 out of 48,100

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

genomics more details view paper
  • Downloaded 2,102 times
  • Download rankings, all-time:
    • Site-wide: 1,467 out of 48,100
    • In genomics: 338 out of 3,527
  • Year to date:
    • Site-wide: 51 out of 48,100
  • Since beginning of last month:
    • Site-wide: 404 out of 48,100

A protein truncating R179X variant in RNF186 confers protection against ulcerative colitis

genetics more details view paper
  • Downloaded 1,980 times
  • Download rankings, all-time:
    • Site-wide: 1,629 out of 48,100
    • In genetics: 162 out of 2,855
  • Year to date:
    • Site-wide: 39,824 out of 48,100
  • Since beginning of last month:
    • Site-wide: 34,077 out of 48,100

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

genetics more details view paper
  • Downloaded 1,817 times
  • Download rankings, all-time:
    • Site-wide: 1,890 out of 48,100
    • In genetics: 191 out of 2,855
  • Year to date:
    • Site-wide: 31,870 out of 48,100
  • Since beginning of last month:
    • Site-wide: 34,833 out of 48,100

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,762 times
  • Download rankings, all-time:
    • Site-wide: 1,977 out of 48,100
    • In genomics: 436 out of 3,527
  • Year to date:
    • Site-wide: 29,809 out of 48,100
  • Since beginning of last month:
    • Site-wide: 31,209 out of 48,100

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

genetics more details view paper
  • Downloaded 1,364 times
  • Download rankings, all-time:
    • Site-wide: 3,031 out of 48,100
    • In genetics: 287 out of 2,855
  • Year to date:
    • Site-wide: 20,772 out of 48,100
  • Since beginning of last month:
    • Site-wide: 25,172 out of 48,100

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 1,296 times
  • Download rankings, all-time:
    • Site-wide: 3,306 out of 48,100
    • In genomics: 645 out of 3,527
  • Year to date:
    • Site-wide: 134 out of 48,100
  • Since beginning of last month:
    • Site-wide: 298 out of 48,100

Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals

genomics more details view paper
  • Downloaded 1,270 times
  • Download rankings, all-time:
    • Site-wide: 3,420 out of 48,100
    • In genomics: 661 out of 3,527
  • Year to date:
    • Site-wide: 144 out of 48,100
  • Since beginning of last month:
    • Site-wide: 382 out of 48,100

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

genomics more details view paper
  • Downloaded 1,118 times
  • Download rankings, all-time:
    • Site-wide: 4,159 out of 48,100
    • In genomics: 762 out of 3,527
  • Year to date:
    • Site-wide: 33,424 out of 48,100
  • Since beginning of last month:
    • Site-wide: 30,147 out of 48,100

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

genomics more details view paper
  • Downloaded 978 times
  • Download rankings, all-time:
    • Site-wide: 5,187 out of 48,100
    • In genomics: 909 out of 3,527
  • Year to date:
    • Site-wide: 40,552 out of 48,100
  • Since beginning of last month:
    • Site-wide: None out of 48,100

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

genomics more details view paper
  • Downloaded 937 times
  • Download rankings, all-time:
    • Site-wide: 5,528 out of 48,100
    • In genomics: 949 out of 3,527
  • Year to date:
    • Site-wide: 25,742 out of 48,100
  • Since beginning of last month:
    • Site-wide: 32,698 out of 48,100

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

genomics more details view paper
  • Downloaded 933 times
  • Download rankings, all-time:
    • Site-wide: 5,575 out of 48,100
    • In genomics: 952 out of 3,527
  • Year to date:
    • Site-wide: 17,526 out of 48,100
  • Since beginning of last month:
    • Site-wide: 21,014 out of 48,100

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

genetics more details view paper
  • Downloaded 831 times
  • Download rankings, all-time:
    • Site-wide: 6,653 out of 48,100
    • In genetics: 541 out of 2,855
  • Year to date:
    • Site-wide: 20,434 out of 48,100
  • Since beginning of last month:
    • Site-wide: 21,933 out of 48,100

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 821 times
  • Download rankings, all-time:
    • Site-wide: 6,765 out of 48,100
    • In genetics: 552 out of 2,855
  • Year to date:
    • Site-wide: 10,940 out of 48,100
  • Since beginning of last month:
    • Site-wide: 15,750 out of 48,100

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

genomics more details view paper
  • Downloaded 731 times
  • Download rankings, all-time:
    • Site-wide: 8,049 out of 48,100
    • In genomics: 1,229 out of 3,527
  • Year to date:
    • Site-wide: 414 out of 48,100
  • Since beginning of last month:
    • Site-wide: 189 out of 48,100

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

genomics more details view paper
  • Downloaded 660 times
  • Download rankings, all-time:
    • Site-wide: 9,286 out of 48,100
    • In genomics: 1,370 out of 3,527
  • Year to date:
    • Site-wide: 530 out of 48,100
  • Since beginning of last month:
    • Site-wide: 87 out of 48,100

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 496 times
  • Download rankings, all-time:
    • Site-wide: 13,545 out of 48,100
    • In genomics: 1,781 out of 3,527
  • Year to date:
    • Site-wide: 15,859 out of 48,100
  • Since beginning of last month:
    • Site-wide: 23,816 out of 48,100

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