Spellchecking for the Story of Life With CRISPR-Cas9 and Base, Prime Editors.
IEEE pulse, 11(6): 6-9 PMID 33315547 DOI 10.1109/MPULS.2020.3038019
Аннотация
Just four letters-A, G, T, and C-make up the alphabet of the genome. It may seem simple, but a small difference in spelling can create mutations that result in life-threatening diseases. Gene variants that cause genetic diseases come in many varieties. Transition point mutations cause conditions such as progeria, the rapid aging disease. Transversion point mutations cause sickle-cell disease and other major disorders. Small insertions can cause Tay-Sachs, which stops nerves working properly and is usually fatal, and deletions can result in cystic fibrosis.