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Author

L. Covill

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Open access Sep 2026

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.

A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary et al. · 0 citations
Open access Sep 2026

AlphaGenome Atlas: in silico mutagenesis of the entire human genome improves prioritization and interpretation of non-coding variants

A major challenge in genomics is deciphering the functional consequences of non-coding genetic variation. Here we present AlphaGenome Atlas, a comprehensive resource that enables the joint interpretation and prioritization of variant effects across the entire human genome. Using AlphaGenome, we predicted the regulatory...

Jun Cheng, Kyle R. Taylor, Lauren Nicolaisen et al. · 3 citations · ⚡1

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