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Publications

Peer-reviewed publications

GeneDx collaborates with top researchers, clinicians and institutions to advance the understanding of how genomics informs health. To-date, we’ve helped identify more than 500 new disease-gene relationships, developed novel tools for genomic data analysis, and more.

Cancer
2026
Cancer Discovery
Cancer Discovery
A tumor-promoting inflammatory SPP1+ macrophage-IL-6-CRP axis drives immune dysfunction in bladder cancer
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AI
2024
JMIR AI
Optimizing Clinical Trial Eligibility Design Using Natural Language Processing Models and Real-World Data: Algorithm Development and Validation
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Discovery
2024
Genetics in Medicine
A multi-center analysis of individuals with a 47,XXY/46,XX karyotype.
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Variant
2024
Am J Hum Genet
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
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AI
2024
Orphanet J Rare Dis
An algorithm to identify patients aged 0-3 with rare genetic disorders
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Variant
2024
Hum Genet
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification
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Counseling
2024
J Genet Couns
Risk assessment and genetic counseling for hematologic malignancies-Practice resource of the National Society of Genetic Counselors
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Prenatal
2024
Genet Med
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
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Discovery
2024
J Med Genet
A comparative medical genomics approach may facilitate the interpretation of rare missense variation.
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