This is a preview. Log in through your library . Abstract Next-generation sequencing technologies are poised to revolutionize the field of biomedicai research. The increased resolution of these data ...

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 ...

Small variations in DNA sequence can alter an organism’s response to the environment or susceptibility to disease. Interpreting the impact of genome sequence variation remains a research challenge.