Author

D. Kasperaviciute

2 papers indexed here

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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. · Genetics in Medicine · 0 citations

Review Open access Aug 2026

Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project

Summary Background Genome sequencing has improved rare disease diagnosis and is now part of routine clinical care in the National Health Service in England. Automated prioritisation pipelines narrow millions of variants per patient to a small subset for clinical review, a process that relies on allele frequency resourc...

S. Tallman, L. Moutsianas, Thuy Nguyen et al. · EBioMedicine · 1 citation