DASAF: An R Package for Deep Sequencing-Based Detection of Fetal Autosomal Abnormalities from Maternal Cell-Free DNA
Joint Authors
Ding, Guohui
Liu, Baohong
Tang, Xiaoyan
Qiu, Feng
Tao, Chunmei
Gao, Junhui
Ma, Mengmeng
Zhong, Tingyan
Cai, JianPing
Li, Yixue
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-06-29
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Background.
With the development of massively parallel sequencing (MPS), noninvasive prenatal diagnosis using maternal cell-free DNA is fast becoming the preferred method of fetal chromosomal abnormality detection, due to its inherent high accuracy and low risk.
Typically, MPS data is parsed to calculate a risk score, which is used to predict whether a fetal chromosome is normal or not.
Although there are several highly sensitive and specific MPS data-parsing algorithms, there are currently no tools that implement these methods.
Results.
We developed an R package, detection of autosomal abnormalities for fetus (DASAF), that implements the three most popular trisomy detection methods—the standard Z -score (STDZ) method, the GC correction Z -score (GCCZ) method, and the internal reference Z -score (IRZ) method—together with one subchromosome abnormality identification method (SCAZ).
Conclusions.
With the cost of DNA sequencing declining and with advances in personalized medicine, the demand for noninvasive prenatal testing will undoubtedly increase, which will in turn trigger an increase in the tools available for subsequent analysis.
DASAF is a user-friendly tool, implemented in R, that supports identification of whole-chromosome as well as subchromosome abnormalities, based on maternal cell-free DNA sequencing data after genome mapping.
American Psychological Association (APA)
Liu, Baohong& Tang, Xiaoyan& Qiu, Feng& Tao, Chunmei& Gao, Junhui& Ma, Mengmeng…[et al.]. 2016. DASAF: An R Package for Deep Sequencing-Based Detection of Fetal Autosomal Abnormalities from Maternal Cell-Free DNA. BioMed Research International،Vol. 2016, no. 2016, pp.1-7.
https://search.emarefa.net/detail/BIM-1097140
Modern Language Association (MLA)
Liu, Baohong…[et al.]. DASAF: An R Package for Deep Sequencing-Based Detection of Fetal Autosomal Abnormalities from Maternal Cell-Free DNA. BioMed Research International No. 2016 (2016), pp.1-7.
https://search.emarefa.net/detail/BIM-1097140
American Medical Association (AMA)
Liu, Baohong& Tang, Xiaoyan& Qiu, Feng& Tao, Chunmei& Gao, Junhui& Ma, Mengmeng…[et al.]. DASAF: An R Package for Deep Sequencing-Based Detection of Fetal Autosomal Abnormalities from Maternal Cell-Free DNA. BioMed Research International. 2016. Vol. 2016, no. 2016, pp.1-7.
https://search.emarefa.net/detail/BIM-1097140
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1097140