Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples

Non-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of cell-free DNA. Although several published computational NIPT analysis tools are available, no prior comprehensive, head-to-head accuracy comparison...

Full description

Bibliographic Details
Main Authors: Ardeshirdavani, A. (Author), Bayindir, B. (Author), Krjutškov, K. (Author), Palta, P. (Author), Paluoja, P. (Author), Salumets, A. (Author), Teder, H. (Author), Vermeesch, J. (Author)
Format: Article
Language:English
Published: Public Library of Science 2021
Subjects:
aneuploidy
Aneuploidy
Article
biology
Computational Biology
computer assisted diagnosis
controlled study
Diagnosis, Computer-Assisted
diagnostic accuracy
diagnostic test accuracy study
diagnostic value
Down syndrome
Edwards syndrome
false negative result
female
Female
fetus
human
Humans
major clinical study
male
mathematical model
noninvasive prenatal testing
Noninvasive Prenatal Testing
pregnancy
Pregnancy
procedures
software
Software
trisomy 13
trisomy 18
trisomy 21
whole genome sequencing
Whole Genome Sequencing
Online Access:View Fulltext in Publisher

Internet

View Fulltext in Publisher

Similar Items