Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders -- problems and possible solutions
Dayne L. Filer, Piotr A. Mieczkowski, Alicia Brandt, Kelly L. Gilmore, Bradford C. Powell, Jonathan S. Berg, Kirk C. Wilhelmsen, 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.
medRxiv · Aug 4, 2020 · PreprintGenetic & Genomic Medicine