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 ...

The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model–Based Prediction An economic model was developed to estimate the ...

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 ...