Author

Nicolas Encina

Harvard University

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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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron J. GoldenbergiD· 1 shared Aditi SatijaiD· 1 shared Alberte Lundquist· 1 shared Aldona Zygmunt· 1 shared Alessandra FerliniiD· 1 shared Alexandra Wiedemann· 1 shared Alice Tuff-Lacey· 1 shared Alison J. CoffeyiD· 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

Aaron J. GoldenbergORCID

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1 paper

Recent·Most cited

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah Bick, Sophia M. Adelson, Nils Gehlenborg, Laura M. Amendola, François Boemer, Alison J. Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner, Bianca E. Russell, Laurent Servais, Kristen Lipscomb Sund, Ryan J. Taft, Petros Tsipouras, , Dominique C. Pichard

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

Genetics in Medicine · May 9, 2025Peer-reviewedGenetic & Genomic Medicine