Genomics has made vital inroads into mainstream drugs — DNA knowledge at the moment are routinely used to tailor most cancers therapies, for instance. However the reference genome created by the Human Genome Challenge, which has underlain so lots of the scientific and medical advances of the final 20 years, was by no means actually completed. Know-how on the time couldn’t resolve the final 8% — huge gaps unfold throughout the genome that collectively add as much as the equal of lacking a whole chromosome.
In case you think about a world map, that’s concerning the measurement of Africa. Meaning medical doctors have all the time been flying with a large blindspot. If a affected person has a disease-causing mutation in any of these parts of the reference genome which might be lacking or include errors, there’s no approach to check for it.