All articles tagged with #pangenomes
The article introduces ctyper, a new method for genotyping sequence-resolved copy number variations using pangenomes, revealing significant paralog-specific diversity and expression differences across human populations, and demonstrating its accuracy and efficiency in large-scale analyses.
GeneDx has developed a new computational tool called the PanGenome Research-Tool Kit (PGR-TK) for analyzing complex and clinically relevant genes that were previously difficult to study. The PGR-TK overcomes limitations of other visualization graphs and enables the visualization of complex genetic structures and variations. In testing, the PGR-TK successfully accessed and interpreted 395 challenging genes associated with male infertility and eye disorders. The software package allows for scalable analysis of genetic sequences with large-scale structural variations, facilitating exploratory analysis and potentially aiding in the understanding of serious genetic diseases.