Author

Sophie Schwartz

Broad InstituteORCID 0000-0003-3989-0664Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam C. EnglishiD· 1 shared Allison N. RozanskiiD· 1 shared Anjene Musick AddingtoniD· 1 shared Beri Shifaw· 1 shared Chelsea Berngruber· 1 shared Chia‐Lin WeiiD· 1 shared Donna Marie MuznyiD· 1 shared Emily L. LaPlanteiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam C. EnglishORCID

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1 paper

Recent·Most cited

Population-scale Long-read Sequencing in the All of Us Research Program

Kiran V. Garimella, Qiuhui Li, Julie Wertz, Samuel K. Lee, Fabio Cunial, Yongqing Huang, Yulia Mostovoy, Ryan Lorig-Roach, Adam C. English, Hang Su, Shawn A. Levy, Donna Marie Muzny, Chelsea Berngruber, Matt Christopher Danzi, William T. Harvey, , Evan E. Eichler

The paper analyzes long-read sequencing data from the All of Us Research Program to identify structural variants and their associations with diseases in a large cohort of Black or African American participants.

medRxiv · Oct 2, 2025 · PreprintGenetic & Genomic Medicine