Not exact matches
Fully sequenced genomes remain
rare, so the bulk of the analysis was done by looking at
genetic markers known as single nucleotide polymorphisms or SNPs.
Still, many scientists have hoped that once they found all the
genetic markers for a disease, including
rare ones that confer higher risk, the total risk carried by some individuals would be high enough — say, two times the normal risk — to merit taking preventive measures.
In 2015, the company began offering a limited test for the
markers of a
rare genetic condition called Bloom Syndrome, which increases cancer risks and makes people with the syndrome very sensitive to sunlight.
However, by examining «
marker alleles,» or
rare genetic differences, the researchers found that early colonizing strains are transferred from the mother, but that late colonizing strains are different and likely are acquired from the environment.
Although common SVs may be tagged reasonably well by SNP
markers, the
rare genetic variants will not be.