Bohan Ni
@bohanni.bsky.social
PhD student in CompSci, Johns Hopkins University. I try to find rare and common variants with impacts on traits/health.
SV prioritization tools in both prioritizing coding and noncoding variant benchmarks. Finally, we were able to prioritize confident rare disease candidate SVs and genes in the Undiagnosed Disease Network data. To learn more, read our paper here: genome.cshlp.org/content/earl....
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms
genome.cshlp.org
March 26, 2025 at 2:30 PM
SV prioritization tools in both prioritizing coding and noncoding variant benchmarks. Finally, we were able to prioritize confident rare disease candidate SVs and genes in the Undiagnosed Disease Network data. To learn more, read our paper here: genome.cshlp.org/content/earl....
After extensive analyses of rare SVs near gene expression outliers using long and short-read sequencing, we developed Watershed-SV, extending Watershed, to prioritize functional rare SVs and genes they impact. Our model significantly improves from a baseline model and state-of-the-art
March 26, 2025 at 2:30 PM
After extensive analyses of rare SVs near gene expression outliers using long and short-read sequencing, we developed Watershed-SV, extending Watershed, to prioritize functional rare SVs and genes they impact. Our model significantly improves from a baseline model and state-of-the-art