Despite recent advancements in our understanding of genetic etiology and its molecular and
physiological consequences, it is not yet clear what genetic features determine the …

Background In nonsyndromic conotruncal cardiac defects, the use of next‐generation
sequencing for clinical diagnosis is increasingly adopted, but gene‐disease associations in …

Whole-exome DNA sequencing is a rich source of clinically useful information for specialists,
patients, and their families, as well as elucidating the genetic basis of monogenic and …

Carrier screening has historically assessed a relatively small number of autosomal
recessive and X-linked conditions selected based on frequency in a specific subpopulation …

Background People with autosomal recessive disorders often were born without awareness
of the carrier status of their parents. The American College of Medical Genetics and …

Background Carrier screening has been an effective way to prevent severe birth defects in
many countries. However, it has not been widely performed in China. In order to identify the …