Author

Peter Fontana

National Institute of Standards and TechnologyORCID 0000-0002-1101-2010Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adrián Muñoz‐BarreraiD· 1 shared Andrew W. CarrolliD· 1 shared Brendan J. PintoiD· 1 shared Carlos FloresiD· 1 shared Chunlin XiaoiD· 1 shared Craig S. GreenbergiD· 1 shared David JáspeziD· 1 shared Donald N. FreediD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adrián Muñoz‐BarreraORCID

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1 paper

Recent·Most cited

Small variant benchmark from a complete assembly of X and Y chromosomes

Justin Wagner, Nathan D. Olson, Jennifer McDaniel, Lindsay N. Harris, Brendan J. Pinto, David Jáspez, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, Jose Miguel Lorenzo-Salazar, Carlos Flores, Sayed Mohammad Ebrahim Sahraeian, Giuseppe Narzisi, Marta S. Byrska‐Bishop, Uday S. Evani, Chunlin Xiao, , Justin M. Zook

The paper creates a variant benchmark for X and Y chromosomes using a complete assembly of HG002, highlighting challenges in variant detection in complex regions.

Nature Communications · Jan 8, 2025Peer-reviewedGenomics