@article{457abdad878545c9b43ef7c7ea493234,
title = "A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT",
abstract = "Next-generation DNA sequencing is currently limited by an inability to accurately count the number of input DNA molecules. Molecular counting is particularly needed when accurate quantification is required for diagnostic purposes, such as in single gene non-invasive prenatal testing (sgNIPT) and liquid biopsy. We developed Quantitative Counting Template (QCT) molecular counting to reconstruct the number of input DNA molecules using sequencing data. We then used QCT molecular counting to develop sgNIPTs of sickle cell disease, cystic fibrosis, spinal muscular atrophy, alpha-thalassemia, and beta-thalassemia. The analytical sensitivity and specificity of sgNIPT was >98% and >99%, respectively. Validation of sgNIPTs was further performed with maternal blood samples collected during pregnancy, and sgNIPTs were 100% concordant with newborn follow-up.",
author = "Tsao, {David S.} and Sukrit Silas and Landry, {Brian P.} and Itzep, {Nelda P.} and Nguyen, {Amy B.} and Samuel Greenberg and Kanne, {Celeste K.} and Sheehan, {Vivien A.} and Rani Sharma and Rahul Shukla and Arora, {Prem N.} and Oguzhan Atay",
note = "Funding Information: We gratefully acknowledge Vimal Jain, Mukesh Bhardwaj, Dr. Amit Bhalla, Dr. Sanjay Srivastava, Dr. Pradeep Varshney, and Dr. Shilpa Chapadgaonka for their assistance with sample collection at Yashoda Hospital and for providing laboratory facilities at Manav Rachna International University. Research reported in this publication was supported by the National Heart, Lung, and Blood Institute of the National Institutes of Health under award number R43HL144322. 10% was funded by federal sources. 90% was funded by BillionToOne. NI was supported by T32DK060445 from the NIDDK. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Publisher Copyright: {\textcopyright} 2019, The Author(s).",
year = "2019",
month = dec,
day = "1",
doi = "10.1038/s41598-019-50378-8",
language = "English (US)",
volume = "9",
journal = "Scientific reports",
issn = "2045-2322",
publisher = "Nature Publishing Group",
number = "1",
}