Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institute of Health, first deciphered the DNA sequence of a human chromosome.
This is stated in the message of the National Institute of Health, US Department of Health and Social Security.
To decipher the chromosome, the researchers took a rare type of benign uterine tumor – chorionadenoma.
The results, which are published in the journal Nature, show that creating the exact sequence of the human chromosome will allow researchers to completely recreate the human genome.
Humans have two sets of chromosomes: one from each parent. Biologically, women inherit two X chromosomes, one from their mother and one from their father. However, these two X chromosomes are not identical and will contain many differences in their DNA sequences.
In this study, scientists used a special type of cell — one that has two identical X chromosomes. Such a cell provides more DNA for sequencing (determining their amino acid or nucleotide sequence) than a male cell that has only one copy of the X chromosome. This also avoids the differences in sequence encountered in the analysis of two X-chromosomes of a typical female cell.
Thanks to new technologies, it was possible to sequence long segments of DNA. Instead of analyzing small pieces of DNA, scientists used a method that leaves DNA molecules mostly intact. These large DNA molecules were then analyzed by two different tools, each of which generates very long DNA sequences – something that previous tools could not perform.
After such an analysis of the human X chromosome, Adam Phillippi and his team used their newly developed computer program to assemble many segments of the generated sequence.
“In fact, we’ve never seen these sequences in our genome before, and we don’t have many tools to verify the predictions we made. That’s why it’s so important that experts from the genomics community weigh and ensure the high quality of the final research product, ”said Karen Miga.
Both Philippi and Miga agree that expanding sequencing methods will provide new opportunities in the field of human genetics and genomics.