Research

AI-driven genomics research integrating multi-omics data for immune disease mechanisms, translational applications, and precision medicine. Through innovative algorithms, large-scale data analysis platforms, and clinical validation, we advance disease gene discovery and diagnostic technologies.

AI/Algorithm Innovation

Developing cutting-edge AI/ML approaches for genomic data analysis and disease prediction. Key achievements include:

  • • VIPPID: First specialized Primary Immunodeficiency variant predictor
  • • GeneRAIN: Transformer-based GRN model for gene regulatory networks
  • • VIPER: LLM for genetic disease gene identification
  • • Enhanced pathogenic variant detection accuracy and efficiency

Disease Mechanism & Translation

Systematic investigation of disease pathogenesis through multi-omics integration, leading to precision diagnosis and treatment strategies:

  • • Identified 50+ causative genes for human diseases (Inborn error of immunity, autoimmune, neuroimmune, etc.)
  • • Elucidated pathogenic mechanisms directly informing clinical practice
  • • Translational research from basic discovery to clinical application
  • • Focus on immune-related disorders and neurodegenerative diseases

Large-Scale Data Analysis Platform Development

Building scalable infrastructure for ultra-large-scale genomic data processing and population studies:

  • • ZBOLT: Genomic analysis platform with 100 Tbp/day processing capacity
  • • Enables population-scale genomic studies and newborn screening programs
  • • Supports multi-ethnic cohort analysis and disease burden assessment
  • • Foundation for large-scale translational genomics research

Major Research Projects

PI

China-Serbia Science and Technology Cooperation Project

Construction of a Genetic Polymorphism Research Platform for Balkan Populations

07/2024–06/2026

Core Member

National Key R&D Program - Ischemic Cerebrovascular Disease

Multi-Omics Network Molecular Mechanism Study

11/2022–12/2025 • ¥15M

PI

BGI Large Population Big Data Research

AI-driven genomics for immune disorders and population health

03/2018–12/2026 • ¥47.65M

PI

National Natural Science Foundation (NSFC)

Exploration of Digenic/Polygenic Pathogenesis in Primary Immunodeficiency

01/2019–12/2021

Platforms & Tools

ZBOLT

Comprehensive genomic analysis and annotation pipeline for variant calling, annotation, and interpretation.

VIPPID

Variant Interpretation Platform for Precision Diagnosis with clinical evidence integration.

GeneRAIN

Gene and variant ranking system for disease association prioritization.

VIPER

Pathogenicity prediction for genomic variants using machine learning.

Collaboration & International Partnerships

We actively seek collaborations with researchers, clinicians, and organizations interested in genomics and precision medicine. Current partnerships include universities and research institutions in the US, Europe, and Asia.

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