The long-term research interest of my laboratory is to understand the mechanisms and consequences of human genomic variation, with a focus on mobile DNA elements, and human disease. We will combine computational and experimental tools to perform genome-wide analyses on human genomic variation. Current research in my lab includes three major areas: understanding mobile element biology, investigating human demographic history and population diversity, and identifying disease-causing genes using genome-wide data.

Zhou, A., Y. Zhang, Y. Sun^#, and J. Xing^# (2018) PipelineDog: a simple and flexible graphic pipeline con-struction and maintenance tool. Bioinformatics 34(9):1603–5

Wang, N.^*, Y. Zhang^*, E. Gedvilaite, J. Loh, T. Lin, X. Liu, C. Liu, D. Kumar, R. Donnelly, K. Raymond, E. H. Schuchman, D. E. Sleat^#, P. Lobel^#, and J. Xing^# (2017) Using whole-exome sequencing to investigate the genetic bases for lysosomal storage diseases of unknown etiology. Human Mutation 38(11):1491–9 

Rustagi, N., A. Zhou, W. S. Watkins, E. Gedvilaite, S. Wang, N. Ramesh, D. Muzny, R. A. Gibbs, L. B. Jorde^#, F. Yu^#, and J. Xing^# (2017) Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. BMC Genomics 18(1):396 

Ha, H., N. Wang, and J. Xing^# (2017) Library Construction for High-Throughput Mobile Element Identification and Genotyping. Methods in Molecular Biology 1589:1-15 

Sleat D.^#, E. Gedvilaite, Y. Zhang, P. Lobel, and J. Xing^# (2016) Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. Gene 593(2):284–91 

Ross J.^#, E. Gedvilaite, J. A. Badner, C. Erdman, S. Barondes, L. Baird, N. Matsunami, M. Leppert, J. Xing^#, and W. Byerley^# (2016) A Rare Variant in CACNA1D segregates with 7 Bipolar I cases in a large pedigree. Molecular Neuropsychiatry 2(3):145-50 

Ha, H., J. Loh, and J. Xing^# (2016) Identification of polymorphic SVA retrotransposons using a mobile element scanning method for SVA (ME-Scan-SVA).Mobile DNA 7:15 

Bruse S.*, M. Moreau*, Y. Bromberg*, J. Jang, N. Wang, H. Ha, M. Picchi, Y. Lin, R. J. Langley, C. Qualls, J. Klensney-Tait, J. Zabner, S. Leng, J. Mao, S. A. Belinsky, J. Xing^#, and T. Nyunoya^# (2016) Whole exome sequencing in severe chronic obstructive pulmonary disease. Human Genomics10:1