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
This work presents a benchmark of 208 clinically grounded rare disease vignettes and identifies a strong authority-framing effect: models favor justice in committee-based contexts and shift toward beneficence and autonomy only when final decisions are framed as being made by clinicians or patients respectively.
Min-Da Zhao, Xuheng Han, R. Goel et al.· 0 citations
Identifying small, interpretable gene sets that robustly capture disease-associated variation in singlecell transcriptomic data remains a central challenge for biological interpretation and experimental followup. In practice, commonly used differential expression and sparsity-based approaches often produce large, unsta...
Adithya V. Madduri, Chirag J. Patel· bioRxiv· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.