School of Science Division of Life Science 20 Human Complex Disease Genomics and Bioinformatics Supervisor: LIANG Chun / LIFS Co-supervisor: XUE Hong / LIFS Student: LIU Ran / BCB Course: UROP1100, Fall Brain cancer is strongly associated with genetic variants. However, genetic variants in human are distributed in clusters and these clusters are known as genetic variant hotspots. Alu elements are transposons essentially contributes to these hotspots due to high-frequency recombination, mainly causing copy number variations. In this project, regions near and between Alu elements were prepared to sequenced using Alu PCR which used primers homologous with Alu elements to specifically locate regions near Alu elements. Blood samples from brain cancer patients are used. DNA from blood samples was extracted and amplified using Inter-Alu PCR. Then the products were fragmentated and selected to size 300 to 400 bp, and genomic AluScan DNA libraries were constructed. Analysis and evaluation of the process of each step were also performed in the project. Human Complex Disease Genomics and Bioinformatics Supervisor: LIANG Chun / LIFS Co-supervisor: XUE Hong / LIFS Student: LIU Zhiyin / BCB Course: UROP1100, Spring Cancer genomics has developed rapidly in recent years and has been applied to the clinical treatment of cancer. This report is a review on cancer genomics development and related techniques. Hallmarks of cancer have been summarized, providing a foundation for comprehending cancer biology. Researchers study several sorts of mutations that cause tumor formation and developed strategies and techniques to tackle these difficulties. Genome-wide association study (GWAS) and exome sequencing are applied to identify coding driver mutations. Whole genome sequencing (WGS) is utilized to detect non-coding driver mutations, and many models are used to correct the mutation rate during the procedure. Exome sequencing and singlecell RNA sequencing are used to investigate epigenomics, which, in addition to mutations, plays a crucial role in cancer genomics. DNA Replication-initiation Proteins in Human Cells Supervisor: LIANG Chun / LIFS Student: SHI Chenwei / BCB Course: UROP1100, Spring The mutation from normal cells to cancer cells is dependent on the abnormal DNA replication. Meanwhile, the disordered replication initiation is an essential part of the cancerization of normal cells. In this report, I review the literature that focuses on several DNA replication initiation proteins which are related to the cancerization of cells. Scientists have used many different methods to study the targeted proteins. For example, silence of the targeted mRNA by the oligodeoxynucleotides and siRNA molecules, the quantitative real-time PCR, CRISPR-Cas9 etc. So far, some proteins have been proved that they can be a marker that distinguish the normal cells and the cancer cells. Also, some proteins are potential target sites that helpful to treat cancer.