Author

A. Pionzio

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

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:long-read sequencing· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Evan E. EichleriD· 2 shared Kiran V. GarimellaiD· 2 shared Nripesh PrasadiD· 2 shared Shawn LevyiD· 2 shared Yongqing HuangiD· 2 shared Adriana P. RebeloiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Allison N. RozanskiiD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Evan E. EichlerORCID

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2 papers

Recent·Most cited

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac R. L. Xu, Marie‐Josée Dicaire, Guinevere Spurdens, Gabriel E. Matos-Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana P. Rebelo, Virginie Roth, Marion Wandzel, , Alba Sanchis‐Juan

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

Nature Genetics · Jun 27, 2024Peer-reviewedGenetics

Utility of long-read sequencing for All of Us

Medhat Mahmoud, Yongqing Huang, Kiran V. Garimella, Peter A. Audano, W. Wan, Nripesh Prasad, Robert E. Handsaker, S. Hall, A. Pionzio, Michael C. Schatz, Michael E. Talkowski, Evan E. Eichler, Shawn Levy, Fritz Joachim Sedlazeck

The paper compares short-read and long-read sequencing in the All of Us initiative, finding HiFi reads provide the most accurate variant calling and presents a cloud-based pipeline for long-read analysis.

Nature Communications · Jan 28, 2024Peer-reviewedBioinformatics