Homo sapiens Exome. Homo sapiens

NIAID Data Ecosystem2026-03-07 收录

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胎儿外显子组测序

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA186895 数据链接链接失效反馈

官方服务：

资源简介：

3rd Trimester pregnant woman's cell-free DNA in blood. See "Non-invasive prenatal measurement of the fetal genome" in the journal Nature.

创建时间：

2013-01-20

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT

DNA甲基化

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DNA methylation is the most characterized epigenetic process exhibiting stochastic variation across different tissues and individuals. In non-invasive prenatal testing (NIPT) fetal specific methylated

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Performance of different discrimination models on NIPT prediction using ten selected features.

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医疗诊断模型优化

Performance of different discrimination models on NIPT prediction using ten selected features.

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DataSheet2_Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.docx

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单基因疾病

Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use. The clinical

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Fractional fetal DNA concentrations in maternal urine as calculated by the SNP approach.

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DNA定量分析

a bLOD, limit of detection. Samples with proportion of fetal-allele fragments lower than the LOD were marked as Table S3 and Methods S1).

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Supporting data for "Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma"

胎儿遗传异常

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Supporting data for "Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma"

DataCite Commons2020-09-05 更新50