Investigating the challenging effect of complete genome sequencing on accurate sequencing of complex human genomic regions
Investigating the challenging effect of complete genome sequencing on accurate sequencing of complex human genomic regions
Ali Ahmadi,1,*Reza Jebraeili,2Dariush D. Farhud,3
1. BSc. Student, Young and Elite Researchers Club, Islamic Azad University Sari Branch, Sari, Iran 2. BSc. Student, Department of Nursing, Islamic Azad University Sari Branch, Sari, Iran 3. School of Public Health, Tehran University of Medical Sciences, Tehran, Iran
Introduction: The role of genome organization in regulating gene activity during development has been the subject of considerable debate. Scientists publish the first complete, non-chat sequence of the human genome. Two decades ago, the Human Genome Project produced the first draft of the human genome sequence, but sequencing remained at 8% of the genome. , The University of California, Santa Cruz, and the University of Washington. NHGRI was the main supplier of this study. The consortium used the complete genome sequence as a reference to discover more than 2 million other species in the human genome. Next-generation sequencing (NGS) can identify mutations in the human genome that cause disease and has been widely used in clinical diagnosis. However, the human genome contains many polymorphic, low-complexity, and repetitive regions that are difficult to sequence and analyze. Despite their complexity, these regions contain many clinically important sequences that can provide treatment for human disease and improve NGS diagnostic function.
Methods: This is a narrative review study in 2022 by searching for keywords such as generation sequencing, genomes, chromosomes, genomic variants, microsatellites in MESH and reputable databases such as Science Direct, Web of Science, and PubMed were searched and 15 articles were found, of which 10 articles were included in the study
Results: Complete genome sequencing analysis significantly adds to our knowledge of chromosomes. Including more detailed maps for the five arms of the chromosome open up new avenues for research. These results help us answer basic biological questions about how chromosomes are properly separated and divided. These studies provide more detailed information on genomic variants in 622 medically related genes. To evaluate the accuracy of NGS analysis of these difficult regions, we constructed a deceptive silicon chromosome, along with corresponding synthetic DNA reference controls, encoding difficult and clinically important human genome regions, including repeats, microsatellites, and HLA genes, and immunity. The receivers of these controls provide a well-known ground truth reference based on which the performance of various sequencing technologies, reagents, and bioinformatics tools can be measured. Using this approach, we provide a comprehensive assessment of short and long-sequence reading tools, library preparation methods, and software tools, and identify systematic errors and biases that distort our clarity in these difficult remaining areas.
Conclusion: Once a person has sequenced their genome, we will be able to identify all the variants in their DNA and use that information to better guide their medical care.