School of Science Division of Life Science 20 Human Complex Disease Genomics and Bioinformatics Supervisor: LIANG Chun / LIFS Co-supervisor: XUE Hong / LIFS Student: LAU Julius Nicholson Jin Xiang / BIEN Course: UROP 3200, Fall UROP 4100, Spring Lung cancer continues to be prevalent form of cancer worldwide and remains the primary cause of cancerrelated deaths in Hong Kong, accounting for 25.7% of all cancer deaths in 2022. Due to the lack of noticeable symptoms during the early stages, the high mortality rate is attributed to late diagnosis, leading to metastases in distant sites such as the brain. Next Generation Sequencing (NGS) has emerged as a promising technique for DNA sequencing, enabling precise determination of genomic sequences and significantly contributing to the diagnosis and treatment of cancer. In this project, we conducted DNA sequencing on tumor tissues, normal tissues, and blood samples from lung cancer patients. The analysis focused on identifying genomic alterations, specifically single-nucleotide variations and copy number variations, using NGS within inter-Alu segments. The initial and crucial step of NGS, known as DNA library preparation, was performed to concentrate the samples on inter-Alu sequences rather than the entire genome. This report provides a comprehensive overview of the specific steps and procedures involved in the library preparation process. Human Complex Disease Genomics and Bioinformatics Supervisor: LIANG Chun / LIFS Co-supervisor: XUE Hong / LIFS Student: MOK Ngai Tang / BIBU Course: UROP 2100, Fall Inter-alu PCR has been a valuable pre-sequencing technique to complement Next Generation Sequencing to provide a time-efficient and cost-effective way to generate large subsets of inter-Alu genomic sequences for analysis. This along with the advancement in bioinformatic tools have allowed researchers to investigation the genetic causes of human complex diseases, such as cancer. This project aims to focus on recurrent glioblastoma and brain tumour metastasis, by constructing a library using DNA samples were extracted from the patient blood samples of these. The library construction involves a 7-step process, starting with DNA isolation from whole white blood cells, followed by inter-Alu, fragmentation, end repairing, 3' end adenylation, adaptor ligation, and index addition & PCR enrichment before sequencing.
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