Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy.

Citation data:

BMC medical genomics, ISSN: 1755-8794, Vol: 9, Issue: 1, Page: 22

Publication Year:
2016
Usage 140
Abstract Views 76
Full Text Views 59
Link-outs 5
Captures 34
Exports-Saves 18
Readers 16
Social Media 2
Tweets 2
Citations 3
Citation Indexes 3
Repository URL:
http://scholarworks.unist.ac.kr/handle/201301/19290
PMID:
27129388
DOI:
10.1186/s12920-016-0182-9
PMCID:
PMC4851803
Author(s):
Kim, Sunshin; Jung, HeeJung; Han, Sung Hee; Lee, SeungJae; Kwon, JeongSub; Kim, Min Gyun; Chu, Hyungsik; Chen, Hongliang; Han, Kyudong; Kwak, Hwanjong; Park, Sunghoon; Joo, Hee Jae; Kim, Byung Chul; Bhak, Jong Show More Hide
Publisher(s):
Springer Nature; BIOMED CENTRAL LTD
Tags:
Biochemistry, Genetics and Molecular Biology; Medicine; Non-invasive prenatal testing; Sequencing; Circulating fetal DNA; Trisomy; Genome
Most Recent Tweet View All Tweets
article description
Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy using next-generation sequencing on ion semiconductor platforms has become common. There are several sequencers that can generate sufficient DNA reads for NIPT. However, the approval criteria vary among platforms and countries. This can delay the introduction of such devices and systems to clinics. A comparison of the sensitivity and specificity of two different platforms using the same sequencing chemistry could be useful in NIPT for fetal chromosomal aneuploidies. This would improve healthcare authorities' confidence in decision-making on sequencing-based tests.