Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases
Author:
Funder
Seoul National University Hospital
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-00759-9.pdf
Reference19 articles.
1. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–7.
2. Hudecova I, Chiu RW. Non-invasive prenatal diagnosis of thalassemias using maternal plasma cell free DNA. Best Pract Res Clin Obstet Gynaecol. 2017;39:63–73.
3. Wong FC, Lo YM. Prenatal diagnosis innovation: genome sequencing of maternal plasma. Annu Rev Med. 2016;67:419–32.
4. Chitty LS, Lo YM. Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA. Cold Spring Harb Perspect Med. 2015;5:a023085.
5. Chiu EKL, Hui WWI, Chiu RWK. cfDNA screening and diagnosis of monogenic disorders - where are we heading? Prenat Diagn. 2018;38:52–58.
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