A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders
Anthony Cutts, Dimitris V. Vavoulis, Mary Petrou, Frances Smith, Barnaby E. Clark, Shirley J. Henderson, Anna Schuh
This paper validates a non-invasive prenatal test for detecting monogenic autosomal recessive disorders using cfDNA sequencing and probabilistic modeling, achieving high sensitivity and specificity in clinical samples.
Blood · Aug 23, 2019Peer-reviewedGenomics