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Self-learning neural network as a prediction model in non-invasive prenatal testing to detect fetal SNVs.

作者信息

Qi Yiming, Hu Chengbin, Yang Jiexia, Gao Ya, Yin Aihua

机构信息

Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, 521 Xingnan St, Guangzhou, Guangdong, 511442, China.

Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong, 511442, China.

出版信息

J Transl Med. 2024 Jul 30;22(1):707. doi: 10.1186/s12967-024-05433-y.

DOI:10.1186/s12967-024-05433-y
PMID:39080705
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11290223/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d0/11290223/72521adbe1aa/12967_2024_5433_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d0/11290223/73ac9430e644/12967_2024_5433_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d0/11290223/72521adbe1aa/12967_2024_5433_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d0/11290223/73ac9430e644/12967_2024_5433_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d0/11290223/72521adbe1aa/12967_2024_5433_Fig2_HTML.jpg

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本文引用的文献

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Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.通过深度三联外显子组测序进行全面的非侵入性胎儿筛查
N Engl J Med. 2023 Nov 23;389(21):2017-2019. doi: 10.1056/NEJMc2307918.
2
High-Resolution and Noninvasive Fetal Exome Screening.高分辨率无创胎儿外显子组筛查
N Engl J Med. 2023 Nov 23;389(21):2014-2016. doi: 10.1056/NEJMc2216144.
3
Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype.通过基于贝叶斯和单倍型的胎儿基因型预测进行单基因疾病的非侵入性产前诊断。
Front Genet. 2022 Jul 1;13:911369. doi: 10.3389/fgene.2022.911369. eCollection 2022.
4
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.基于贝叶斯理论的单基因疾病无创性产前诊断。
Genome Res. 2019 Mar;29(3):428-438. doi: 10.1101/gr.235796.118. Epub 2019 Feb 20.