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Building an Iranian Reference Panel by Imputing Low-coverage Genomic Data
, M.Sc. Thesis Sharif University of Technology ; Foroughmand Araabi, Mohammad Hadi (Supervisor)
Abstract
One of the most available genomics data in Iran is non-invasive parental testing (NIPT) data obtained from the blood of pregnant mothers after the tenth week of pregnancy using the new generation sequencing technology. Sequencer output is a combination of maternal and fetal read data, most of which (about 90%) is from maternal DNA. These data have very low coverage of the genome, but their advantage is that they read the entire human genome. Low coverage data has led to the loss of large parts of the genome, but having a large number of samples helps to compensate for this problem. The purpose of this project is to use this data with the help of imputation methods to build a reference for...