Publications by authors named "D A Barnum"
Article Synopsis
- Recent advancements in genomics for diagnosing rare diseases focus on "N-of-1" analyses, allowing for tailored studies on individual patients with ultra-rare conditions.
- The Undiagnosed Diseases Network (UDN) enables collaborative research across various U.S. clinical and research centers, which enhances the ability to analyze whole genome sequencing data from multiple patients simultaneously.
- Introducing a new software package, RaMeDiES, the team provides tools for automated comparisons of genomic data, leading to novel disease associations and improving overall understanding of genetic links to these rare diseases.
The small intestine is a rapidly proliferating organ that is maintained by a small population of Lgr5-expressing intestinal stem cells (ISCs). However, several Lgr5-negative ISC populations have been identified, and this remarkable plasticity allows the intestine to rapidly respond to both the local environment and to damage. However, the mediators of such plasticity are still largely unknown.
View Article and Find Full Text PDFPrime editing enables search-and-replace genome editing but is limited by low editing efficiency. We present a high-throughput approach, the Peptide Self-Editing sequencing assay (PepSEq), to measure how fusion of 12,000 85-amino acid peptides influences prime editing efficiency. We show that peptide fusion can enhance prime editing, prime-enhancing peptides combine productively, and a top dual peptide-prime editor increases prime editing significantly in multiple cell lines across dozens of target sites.
View Article and Find Full Text PDFData Envelopment Analysis (DEA) allows healthcare scholars to measure productivity in a holistic manner. It combines a production unit's multiple outputs and multiple inputs into a single measure of its overall performance relative to other units in the sample being analyzed. It accomplishes this task by aggregating a unit's weighted outputs and dividing the output sum by the unit's aggregated weighted inputs, choosing output and input weights that maximize its output/input ratio when the same weights are applied to other units in the sample.
View Article and Find Full Text PDFThree problems impede the assessment of hospital pharmacy efficiency. First, although multiple efficiency indicators are utilized to measure a large variety of activities, it has not been possible to validly measure overall efficiency. Second, there have been no widely-used clinical activity indicators, so key outputs often have not been accounted for.
View Article and Find Full Text PDF