Author

Dominique C. Pichard

ORCID 0000-0002-6492-622XUnclaimed 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: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

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 9, 2025

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

Thomas Minten, Sarah Bick, Sophia M. Adelson…·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.

73 citationstop 1%

humanwhole-genome sequencing

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