Utilizing the Knowledge of the Completely Assembled Human Chromosomes X and 8

Abstract

DNA sequencing is the process of determining the sequence of nucleotides in a DNA chain. It is of great importance in various fields of science, as it provides information "encoded" in our genome. From 1990 to 2003, scientists within the Human Genome Project worked on sequencing the human genome. The assembly was complete and brought many discoveries, but it was not perfect and had many gaps. In 2020, a team of scientists from the Telomere-to-Telomere consortium announced a new version of the human genome, where the gaps were filled with the help of modern sequencing technologies. They also succeeded in completely assembling human chromosomes X and 8. One of the aims of my thesis is to theoretically study CHM13hTERT cell line and the manipulations done on it in order to understand what contribution they made to genome sequencing. Moreover, the plan of how one can adapt information about completely sequenced chromosomes X and 8 is suggested in this work.