Machine learning for biomedical data

AI Genomics and Digital Pathology

AI-driven approaches for pathogenic variant annotation, quality control in large-scale WGS, multi-omic integration, and digital pathology risk prediction.

Overview

AI Genomics and Digital Pathology

The CV highlights an expanding translational data-science direction: applying machine learning and deep learning across variant annotation, functional genomics, automated WGS quality control, and whole-slide pathology image analysis. This adds a forward-looking AI thread to the job-market research profile while staying grounded in genomics and disease biology.

  • Pathogenic noncoding variant annotation using statistical and neural-network models that integrate epigenetic marks, conservation, microRNA binding, and other multi-omic data.
  • Automated WGS quality-control pipelines with variant-level and sample-level filters, anomaly detection, and batch-effect checks.
  • Digital pathology work using H&E whole-slide images for tumor-region localization and 10-year progression-risk stratification in ER-positive, lymph-node-negative breast cancer.
  • Graph-based and machine-learning approaches for regulatory-network reconstruction, protein-protein interaction modeling, pathway enrichment, and clinical multi-omic analysis.
AI Genomics and Digital Pathology figure

Publications

Related work

Representative publications connected to this project.

2024

Deciphering the impact of genomic variation on function.

IGVF Consortium.

Nature. 2024;633(8028):47-57.

2024

FAVOR-GPT: a generative natural language interface to whole genome variant functional annotations.

Li TC, Zhou H, Verma V, Tang X, Shao Y, Van Buren E, Weng Z, Gerstein M, Neale B, Sunyaev SR, Lin X.

Bioinform Adv. 2024;4(1):vbae143.

2022

A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.

Li X, Yung G, Zhou H, Sun R, Li Z, Hou K, Zhang MJ, Liu Y, Arapoglou T, Wang C, Ionita-Laza I, Lin X.

Am J Hum Genet. 2022;109(3):446-456.