Author

Stephanie Buchholtz

Translational Genomics Research Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Assay:Hi-C· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Benedict PateniD· 1 shared Danyael Murphy· 1 shared Dorothy Marie Paredes· 1 shared Emilia Volpe· 1 shared Floris P BartheliD· 1 shared Jessica Molnar· 1 shared Jonathan J. KeatsiD· 1 shared Kara Karaniuk· 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 paperGenomics

Benedict PatenORCID

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1 paper

Recent·Most cited

Diploid genome assembly of human fibroblast cell lines enables clone specific variant calling, improved read mapping and accurate phasing

T. Rhyker Ranallo-Benavidez, Yue Hao, Emilia Volpe, Maryam Jehangir, Noelle H. Fukushima, Ogechukwu Mbegbu, Rebecca A. Reiman, Jessica Molnar, Danyael Murphy, Dorothy Marie Paredes, Shukmei Wong, Kara Karaniuk, Stephanie Buchholtz, Jonathan J. Keats, Mitchell J. Machiela, , Floris P Barthel

The paper presents diploid genome assemblies for two human fibroblast cell lines, enabling clone-specific variant calling, improved read mapping, and accurate phasing.

bioRxiv · Apr 15, 2025 · PreprintGenomics