Educational Resource Hub

GeneDx offers more than a test. We’re dedicated to advancing the field of genomics—so more patients get answers.

Clinical Practice Guidelines

Conferences & Events

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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.

Newborn

2025

Nat Med

Nat Med

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Genome

2025

J Pediatr

Implementation of First-Tier Rapid Genome Sequencing in Non-Critical Care Pediatric Wards

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

AI

2025

Am J Med Genet A

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Newborn

2025

Am J Hum Genet

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Developmental

2025

Med Genet

Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Genome

2025

Nat Commun

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

AI

2025

Hum Genet

Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Exome

2025

Genet Med

Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Variant

2025

PLoS Genet

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

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