Author

Eric J. Topol

Scripps Research InstituteORCID 0000-0002-1478-4729Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:benchmarking· 2 Research Focus:differential expression· 2 Assay:GWAS summary statistics· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:drug response / drug discovery· 1 Assay:electronic health records· 1

Frequent Co-Authors

Ali TorkamaniiD· 2 shared Bhuvan Molparia· 2 shared Brian Schrader· 2 shared Emily G. SpenceriD· 2 shared Evan D. MuseiD· 2 shared Nathan E. WineingeriD· 2 shared Ahmed El-kallinyiD· 1 shared Ali G. GharaviiD· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ali TorkamaniORCID

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4 papers

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedMay 19, 2025

A CRISPR/Cas9-based enhancement of high-throughput single-cell transcriptomics

Amitabh C. Pandey, Jon Bezney, Dante DeAscanis…·Eric J. Topol

The paper introduces scCLEAN, a CRISPR/Cas9-based method to enhance single-cell transcriptomics by improving library complexity and isoform detection.

14 citations

humanscRNA-seq

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Genetic & Genomic MedicineCommunications BiologyPeer-reviewedFeb 19, 2024

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Eric Venner, Karynne Patterson, Divya Kalra…·May Okihiro

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

61 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic Medicinenpj Digital MedicinePeer-reviewedMar 11, 2022

Response to Polygenic Risk: Results of the MyGeneRank Mobile Application-Based Coronary Artery Disease Study

Evan D. Muse, Shang‐Fu Chen, Shuchen Liu…·Ali Torkamani

This study evaluates the impact of coronary artery disease polygenic risk scores on lipid-lowering therapy initiation via a mobile application, finding higher therapy rates among high-risk individuals.

43 citationstop 1%

humanGWAS summary statistics

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GenomicsbioRxivPreprintJan 19, 2017

Moving Beyond Clinical Risk Scores with a Mobile App for the Genomic Risk of Coronary Artery Disease

Evan D. Muse, Nathan E. Wineinger, Brian Schrader…·Eric J. Topol

The paper introduces a mobile app, MyGeneRank, that provides individuals with their genomic risk of coronary artery disease to inform lifestyle and medication decisions.

8 citations

humanGWAS summary statistics

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