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Author

H. Rehm

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Oct 2026

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BRIDGES-NBS.

PURPOSE BRIDGES-NBS is a feasibility study evaluating the integration of genome sequencing into newborn screening (NBS) across multiple U.S. states and territorial public health laboratory programs (PHLPs). We developed a list of conditions for screening. METHODS We designed inclusion criteria and assembled an initia...

Nina B. Gold, B. Johnson, H. Somanchi 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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