A new scientific perspective claims that changes in the fundamental structure of the human genome produce different genetic characteristics, rather than changes in human traits being caused by point mutations.
Point mutations, also known as single nucleotide mutations, directly determine the molecular structure of DNA. They are the most maturely studied mutations and are also the targets most often attacked by genetic diseases. Structural mutations, on the other hand, have been studied much less, but these mutations may lead to large-scale changes.
This new research does not attempt to link diseases with genetic structural mutations, but these unstudied structural mutations include a part called "genetic deletion," and most diseases are hereditary, with only a small portion of segments being trackable on the genetic level. Gerstein states that structural mutations are now a very popular topic and they could possibly be the direct leaders and executors of human genetic mutations.