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非侵入性产前检测中胎儿微缺失和单基因变异估计的生物信息学方法比较

Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing.

作者信息

Paul Lizzy Teleboshe, Ergoren Mahmut Cerkez

机构信息

Department of Medical Biology, Faculty of Medicine, Near East University, Nicosia, Cyprus.

Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus.

出版信息

Glob Med Genet. 2022 Feb 25;9(2):72-75. doi: 10.1055/s-0042-1743573. eCollection 2022 Jun.

DOI:10.1055/s-0042-1743573
PMID:35707785
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9192181/
Abstract

Prenatal testing provides crucial information about the health status of fetuses as well as recommending better treatment. For the past decades, prenatal testing using chorionic villus sampling and amniocentesis were the two majorly used forms of invasive prenatal diagnostic approaches. However, to facilitate prenatal testing without causing any danger to the fetus, the noninvasive prenatal diagnostic method, which uses circulating cell-free deoxyribonucleic acid (DNA), has become a suitable method of prenatal diagnosis. This review discusses the recent bioinformatics approaches used for analyzing fetal DNA concentration.

摘要

产前检测提供有关胎儿健康状况的关键信息,并推荐更好的治疗方法。在过去几十年中,使用绒毛取样和羊膜穿刺术的产前检测是两种主要使用的侵入性产前诊断方法。然而,为了在不危及胎儿的情况下促进产前检测,使用循环游离脱氧核糖核酸(DNA)的非侵入性产前诊断方法已成为一种合适的产前诊断方法。本文综述了最近用于分析胎儿DNA浓度的生物信息学方法。

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本文引用的文献

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Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing.非侵入性产前检测中胎儿DNA分数估计的生物信息学方法
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Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles.基于全基因组核小体图谱计算无创产前检测的胎儿分数。
Prenat Diagn. 2016 Jul;36(7):614-21. doi: 10.1002/pd.4816. Epub 2016 May 20.
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10
FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma.胎儿定量分析:从母体血浆中 DNA 的大规模平行测序推断出胎儿 DNA 的分数浓度。
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