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Author: Marylyn D. Ritchie

Rankings

  • All-time downloads: 12,650 (rank: 16,089 (tie) )
  • Categories:
    • bioinformatics: 2,680 (rank: 5,384 (tie) )
    • epidemiology: 831 (rank: 11,320 (tie) )
    • gastroenterology: 144 (rank: 1,686 (tie) )
    • genetic and genomic medicine: 2,224 (rank: 1,311 )
    • genetics: 3,288 (rank: 5,764 )
    • genomics: 3,483 (rank: 7,312 )

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Preprints

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

genomics more details view paper
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Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

genetic and genomic medicine more details view paper
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    • In genetic and genomic medicine: 46
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    • Site-wide: 7,739

eQTpLot: a user-friendly R package for the visualization and colocalization of eQTL and GWAS signals

bioinformatics more details view paper
  • Downloaded 980 times
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Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

genomics more details view paper
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    • In genomics: 2,341
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Depression Linked to Frequent Emergency Department Use in Large 10-year Retrospective Analysis of an Integrated Health Care System

epidemiology more details view paper
  • Downloaded 831 times
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    • Site-wide: 29,754
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Tribe: The collaborative platform for reproducible web-based analysis of gene sets

bioinformatics more details view paper
  • Downloaded 766 times
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    • Site-wide: 33,270
    • In bioinformatics: 3,683
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Disrupting upstream translation in mRNAs leads to loss-of-function associated with human disease

genomics more details view paper
  • Downloaded 654 times
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    • Site-wide: 41,194
    • In genomics: 3,383
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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

genetics more details view paper
  • Downloaded 594 times
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    • In genetics: 2,131
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Discovering patterns of pleiotropy in genome-wide association studies

genetics more details view paper
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    • In genetics: 2,143
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Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

genetics more details view paper
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    • Site-wide: 47,610
    • In genetics: 2,177
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    • Site-wide: 101,115
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Genome wide-association study identifies novel loci in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study

genetics more details view paper
  • Downloaded 568 times
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    • Site-wide: 49,080
    • In genetics: 2,245
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Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data

genetics more details view paper
  • Downloaded 518 times
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    • Site-wide: 54,864
    • In genetics: 2,482
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A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

bioinformatics more details view paper
  • Downloaded 447 times
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    • Site-wide: 64,405
    • In bioinformatics: 6,277
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Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

genetics more details view paper
  • Downloaded 436 times
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    • Site-wide: 66,150
    • In genetics: 2,988
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    • Site-wide: 42,554
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Multi-trait association studies discover pleiotropic loci between Alzheimer's disease and cardiometabolic traits

genetic and genomic medicine more details view paper
  • Downloaded 372 times
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    • Site-wide: 77,183
    • In genetic and genomic medicine: 301
  • Year to date:
    • Site-wide: 54,919
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Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis

genomics more details view paper
  • Downloaded 301 times
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    • Site-wide: 91,432
    • In genomics: 5,708
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    • Site-wide: 38,081
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    • Site-wide: 51,962

Collective feature selection to identify crucial epistatic variants

bioinformatics more details view paper
  • Downloaded 298 times
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    • Site-wide: 92,131
    • In bioinformatics: 8,094
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    • Site-wide: 122,249
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    • Site-wide: 100,086

Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults

bioinformatics more details view paper
  • Downloaded 189 times
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    • Site-wide: 117,421
    • In bioinformatics: 9,611
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Rapid Identification and Phenotyping of Nonalcoholic Fatty Liver Disease Patients Using an Automated Algorithmic Approach in Diverse, Urban Healthcare Systems

gastroenterology more details view paper
  • Downloaded 144 times
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    • Site-wide: 127,397
    • In gastroenterology: 170
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Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

genetic and genomic medicine more details view paper
  • Downloaded 136 times
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    • Site-wide: 129,157
    • In genetic and genomic medicine: 668
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Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci

genetic and genomic medicine more details view paper
  • Downloaded 123 times
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    • Site-wide: 131,742
    • In genetic and genomic medicine: 689
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    • Site-wide: 36,873
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A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank

genetic and genomic medicine more details view paper
  • Downloaded 59 times
  • Download rankings, all-time:
    • Site-wide: 141,446
    • In genetic and genomic medicine: 777
  • Year to date:
    • Site-wide: 72,137
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    • Site-wide: 15,100

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