Multi-omics investigation of tandem-repeat variation

Center for Medical Genetics & Xiangya Hospital · Central South University

Doctoral thesis project · Key Project, Hunan Provincial Graduate Research Innovation Program

• Conduct family-based genomic and multi-omics analyses in neuropsychiatric disorder cohorts, from sequencing quality control, alignment, and variant discovery to molecular phenotype quantification.
• Integrate genetic and transcriptomic data using statistical genetics and QTL approaches; prioritize candidate loci, genes, and biological processes through functional annotation and regulatory interpretation.
• Develop reproducible workflows for large-scale sequencing and multi-omics data analysis.

Disease-associated tandem repeats in neuropsychiatric disorders

Center for Medical Genetics & Xiangya Hospital · Central South University

• Curated reported pathogenic and disease-associated repeat loci and analyzed their variation in in-house and public family-based cohorts.
• Performed repeat genotyping, quality control, locus-level inspection, and inheritance assessment to prioritize candidate variants and compare shared and cohort-specific signals across populations.