Transposons are DNA segments that can move within the genome. Up to 70% of the human genome may originate from transposons, with some still active today. A significant portion of genomic variation between individuals is caused by transposons. Using GTEx project data, which provides whole-genome sequencing from over 600 individuals and gene expression data across 50+ tissues/organs, we systematically identify and analyze how transposons influence gene expression and alternative splicing.
Approximately 0.6% of children are diagnosed with Tourette Syndrome, and about 2% with autism. These conditions are associated with neurodevelopmental abnormalities. As polygenic disorders, their pathogenic mechanisms remain unclear. By analyzing exome sequencing data from multiple family members including patients, we use pVAAST software to prioritize potential disease-causing genes. We combine various data sources to identify candidate genes and collaborate with other laboratories to validate experimental hypotheses, advancing our understanding of these disorders and guiding potential future treatments.
Next-generation sequencing is widely used in personal genome research. We've developed software that generates protein sequences based on genomic variants. This data serves as a reference sequence database for proteomics mass spectrometry analysis, improving peptide identification specificity. Using GTEx and gnomAD data, we can identify numerous new potential genes and common variants in human populations. Combined with other evidence, we seek to discover new coding genes in the genome.
Using public data to predict various possible gene models, we employ proteogenomic methods to identify protein sequences encoded by non-classical reading frames in human and mouse genomes, known as the dark proteome.
We study the role of transposons in cancer development through exome sequencing data. Using proteogenomic methods, we integrate transcriptomics, genomics, and proteomics to investigate protein expression and variation during cancer progression. We employ CRISPR Screen technology to study tumor drug resistance mechanisms and analyze tumor immune microenvironment's impact on tumor progression through single-cell sequencing technology.