Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders
Bing Xiao, Hongqian Liu, Yu Sun, Xiaotian Su et autres
BACKGROUND: Currently, the American College of Medical Genetics and Genomics (ACMG) carrier screening (CS) guidelines do not recommend routinely screening for conditions with carrier frequencies ≤ 1:200. Advances in DNA sequencing and declining costs, alongside growing awareness, make it increasingly feasible to …
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Genome Medicine