Open access
Jul 2026
Integrated Single-Strand DNA Capture and Haplotype-Guided Variant Calling Platform for Non-Invasive Prenatal Testing of Monogenic Disorders
An accurate and robust NIPT-MD platform for monogenic disorders, with high concordance to invasive testing validated in a retrospective cohort of 35 clinical cases, holds promise for clinical application in managing families at high risk of monogenic diseases.
Jie Shen, Wei Liu, Li Lu et al.
· Diagnostics · 0 citations