Haoyu Cheng, PhD, assistant professor in the Department of Biomedical Informatics and Data Science, has received an R01 award from the National Human Genome Research Institute (NHGRI) of the National Institutes of Health totaling $2,618,998. The four-year award funds the project "Toward Comprehensive Genomic Analysis Through De Novo Genome Assembly," which runs from July 2026 through June 2030.
This project develops next-generation algorithms to make de novo genome assembly faster, more accurate, and scalable for research and clinical genomics. The resulting open-source software will enable routine telomere-to-telomere genome assembly and comprehensive analysis of genomic variation. The work builds on the widely adopted hifiasm toolkit developed in Cheng's group, which is used across major efforts including the Human Pangenome Reference Consortium and the Vertebrate Genomes Project.
The project is organized around three aims: a real-time algorithm that makes telomere-to-telomere (T2T) assembly routine, a framework for reconstructing challenging medically relevant genes at cohort scale, and a reference-free toolkit for assembly-based variant calling and methylation profiling.