Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approach.

doi:10.1007/s10815-025-03607-1

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Article

Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approach.

Journal of assisted reproduction and genetics - 1 Sept 2025

Zheng Jiayong, Zhang Qian, Xu Lei, Zhang Victor Wei, Zheng Jianqiong, Zhang Chenhui, Chen Kaixin, Lai Yanan, Wang Hai, Zheng Xianjue, Li Dongzhi

Abstract excerpt

PURPOSE: This study evaluated the effectiveness and accuracy of medium-coverage whole genome sequencing (CMA-seq) for detecting triploidy in early pregnancy miscarriage tissues, comparing its performance with that of chromosomal microarray analysis (CMA) and low-coverage whole genome sequencing (CNV-seq) combined with short tandem repeat (STR) testing. METHODS: In the initial phase, the CMA-seq analytical...

Read the complete abstract on PubMed

Topics

Humans
Female
Triploidy
Pregnancy
Abortion, Spontaneous
Algorithms

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Whole Genome Sequencing

Polymorphism, Single Nucleotide

DNA Copy Number Variations

Male

Adult

Chromosomes, Human, X

Chromosomes, Human, Y

Microsatellite Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 40750717
DOI: 10.1007/s10815-025-03607-1
PMCID: PMC12559564

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