Finding Small Chromosome Abnormalities with DNA Sequencing
December 1, 2015 | Terry Sharrer
In July 2012, researchers at Stanford University announced that they had sequenced the entire genome of a fetus using only DNA extracted from the mother’s blood. Since then, other scientists have used high throughput sequencing to detect small chromosome abnormalities—deletions and duplications—of both known and unknown significance. Clearly, more research is needed to identify the unknowns, but a simple blood test is preferable to the more invasive means of prenatal diagnosis. MORE
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