Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

To address these limitations, we developed noninvasive prenatal screening using deep trio-exome sequencing; this comprehensive noninvasive method has high sensitivity for detecting fetal ...

This article was published in Scientific American’s former blog network and reflects the views of the author, not necessarily those of Scientific American Sequencing of the exome – the ...