Accurate fetal variant calling in the presence of maternal cell contamination-Reference-Cited by-同舟云学术

Accurate fetal variant calling in the presence of maternal cell contamination

Published:2020-07-29 Issue:11 Volume:28 Page:1615-1623
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nabieva Elena^ORCID,Sharma Satyarth Mishra,Kapushev Yermek,Garushyants Sofya K.,Fedotova Anna V.,Moskalenko Viktoria N.,Serebrenikova Tatyana E.,Glazyrina Eugene,Kanivets Ilya V.^ORCID,Pyankov Denis V.^ORCID,Neretina Tatyana V.,Logacheva Maria D.,Bazykin Georgii A.^ORCID,Yarotsky Dmitry

Funder

Skoltech Biomedical Initiative grant 2017-4

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-020-0697-6.pdf

Reference21 articles.

1. Tayoun ANA, Spinner NB, Rehm HL, Green RC, Bianchi DW. Prenatal DNA sequencing: clinical, counseling, and diagnostic laboratory considerations. Prenat Diagn. 2018;38:26–32.

2. Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2018;38:10–9.

3. Stojilkovic-Mikic T, Mann K, Docherty Z, Ogilvie CM. Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping. Prenat Diagn 2005;25(1):79–83.

4. Weida J, Patil AS, Schubert FP, Vance G, Drendel H, Reese A, et al. Prevalence of maternal cell contamination in amniotic fluid samples. J Matern Fetal Neonatal Med. 2017;30:2133–7.

5. Lamb AN, Rosenfeld JA, Coppinger J, Dodge ET, Dabell MP, Torchia BS, et al. Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis. Genet Med. 2012;14:914–21.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data;Clinical Chemistry;2024-06-12

2. A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism;BMC Pregnancy and Childbirth;2024-02-12

3. Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance;Genome Research;2022-11