Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders -- problems and possible solutions
Dayne L. Filer, Piotr A. Mieczkowski, Alicia Brandt…·Neeta L. Vora
This study shows exome sequencing of cell-free DNA is limited by technical issues and sampling challenges, making it unsuitable for noninvasive prenatal detection of single-gene disorders.