Zhi Lab
Principal Investigator: Degui Zhi
Institution: Yale University (New Haven, CT)
Primary Subfield: Genetics/Genomics
Recruitment Status: ✅ Hiring Postdocs
Research Focus
PROJECT SUMMARY/ABSTRACT - No change from original submission The Human Pangenome Reference Consortium (HPRC) has built a tremendously valuable resource of high- quality human pangenome reference assemblies of individuals and their corresponding pangenome graph that greatly reduced reference biases. However, uptake and utilization of the HPRC pangenome resources by the human genetics community for the analysis of complex structural variations (SV) remain limited. Most existing SV methods are based on existing catalogs of known SVs represented in linear reference-based VCF files, and thus still suffer from reference biases. Lack of methods and tools for better leveraging the reference pangenome graph is a critical gap that hinders the realization of the full potential of pangenome-enabled genetic studies, including those for Alzheimer’s disease (AD) and other complex traits. We will address these challenges by developing path-based algorithms for genotyping complex SVs and extending the pangenome reference using AD genetics data. We will translate our expertise and experience in developing positional Burrows-Wheeler transform (PBWT) algorithms to its pangenome counterpart, the GBWT…
Active NIH Awards
- 7U01AG098387-02: PG4AD: Scaling up pangenome graph for genotyping complex structural variations for Alzheimer's disease genetics (2026)
- 7R01HG010086-08: Scalable methods for identity by descent (2026)
- 1U01AG098387-01: PG4AD: Scaling up pangenome graph for genotyping complex structural variations for Alzheimer's disease genetics (2026)
- 5U01AG070112-05: Genetics of deep-learning-derived neuroimaging endophenotypes for Alzheimer's Disease (2025)
- 5R01HG010086-07: Scalable methods for identity by descent (2025)
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