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Author: Marylyn D. Ritchie

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    • bioinformatics: 1,784 (rank: 7,099 (tie) out of 36,781)
    • epidemiology: 738 (rank: 2,436 (tie) out of 9,545)
    • genetics: 2,846 (rank: 5,908 out of 38,573)
    • genomics: 2,852 (rank: 7,452 (tie) out of 45,497)

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Preprints

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

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Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

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Depression Linked to Frequent Emergency Department Use in Large 10-year Retrospective Analysis of an Integrated Health Care System

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Tribe: The collaborative platform for reproducible web-based analysis of gene sets

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Discovering patterns of pleiotropy in genome-wide association studies

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Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

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Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data

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Genome wide-association study identifies novel loci in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study

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Disrupting upstream translation in mRNAs leads to loss-of-function associated with human disease

genomics more details view paper
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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
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Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

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eQTpLot: an R package for the visualization and colocalization of eQTL and GWAS signals

bioinformatics more details view paper
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Collective feature selection to identify crucial epistatic variants

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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
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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
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