Total number of reads affects the accuracy of fetal fraction estimates in NIPT

• Published in: Molecular genetics & genomic medicine Vol. 9; no. 4; pp. e1653 - n/a
• Main Authors: Miceikaitė, Ieva, Brasch‐Andersen, Charlotte, Fagerberg, Christina, Larsen, Martin Jakob
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.04.2021; John Wiley and Sons Inc; Wiley
• Subjects: Accuracy; cell‐free DNA; Chromosomes; circulating fetal DNA; Data analysis; DNA methylation; Estimates; fetal fraction; Fetuses; Genomes; Methods; NIPT; Open source software; Original; Polymorphism; Pregnancy; prenatal diagnosis; Quality control; Ratios; Sequences; Software; cell-free DNA; circulating fetal DNA; NIPT; prenatal diagnosis; fetal fraction

ABSTRACT Background Sufficient fetal fraction (FF) is crucial for quality control of NIPT (Non‐Invasive Prenatal Test) results. Different factors influencing bioinformatic estimation of FF should be considered when implementing NIPT. To what extent the total number of sequencing reads influences FF...