Xiuqing Ji

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single‐cell transcriptomics

Wénwén Liú, Hao Chen, Jiao Jiao, Qinxin Zhang et autres

Single-cell transcriptomic interrogation of DUX4 target signatures in facioscapulohumeral muscular dystrophy (FSHD).(A) Cellular expression frequency of DUX4-67 signature genes across 12 samples.Arrow denotes DUX4-affected subpopulation.(B) Relationship between expressed DUX4 biomarkers per cell and aggregate transcript counts in FSHD specimens.Dashed line indicates threshold …

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Optical Genome Mapping for Prenatal Diagnosis in Fetuses With Structural Anomalies

XU Yi-yun, Hao Chen, Qinxin Zhang, Juan Tan et autres

OBJECTIVE: To evaluate the clinical value of optical genome mapping (OGM) for prenatal diagnosis in fetuses with structural anomalies. METHOD: OGM was performed prospectively in 204 cases of fetuses with structural anomalies. Detection rates of OGM were investigated. Subgroup analysis was then …

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Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay

Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu et autres

BACKGROUND: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at …

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Optical Genome Mapping for Chromosomal Aberrations Detection—False-Negative Results and Contributing Factors

XU Yi-yun, Qinxin Zhang, Yan Wang, Ran Zhou et autres

Optical genome mapping (OGM) has been known as an all-in-one technology for chromosomal aberration detection. However, there are also aberrations beyond the detection range of OGM. This study aimed to report the aberrations missed by OGM and analyze the contributing factors. OGM …

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Prenatal diagnosis of chromosomal abnormalities using optical genome mapping vs chromosomal microarray

Ping Hu, XU Yi-yun, Qinxin Zhang, Ran Zhou et autres

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11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation

Qinxin Zhang, Yan Wang, Jing Zhou, Ran Zhou et autres

BACKGROUND: We describe a 13-year-old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre- and postnatal growth retardation, global developmental delay, severe language delay, cardiac abnormalities, and dysmorphisms. Her maternal family members all had …

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Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Qinxin Zhang, Yan Wang, XU Yi-yun, Ran Zhou et autres

INTRODUCTION: Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical feasibility studies of optical genome mapping in …

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Fraud Web URL Detection Based on Bi-LSTM

Xiuqing Ji, Huawei Song, Fangjie Wan

Aiming at the problem of accurate identification of fraudulent web pages, a Bi-directional Long Short-Term Memory (Bi-LSTM) recognition model based on URL sequence mixed encoding of characters and words is proposed. According to the arrangement rules of URL sequences, special characters are …

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Fraud web page detection based on bidirectional LSTM and attention mechanism

Huawei Song, Xiuqing Ji, Fangjie Wan

With the increasing popularity of the Internet, network security issues are also increasing and there are more and more fraudulent web pages, which also brings great obstacles to the governance of network security. However, for the detection of fraudulent web pages, most …

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Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population

Fang Zhang, Jianxin Tan, Binbin Shao, Tao Jiang et autres

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Current attitudes and preconception towards expanded carrier screening in Eastern Chinese reproductive population

Fang Zhang, Jianxin Tan, Binbin Shao, Tao Jiang et autres

Objective To explore the Chinese reproductive-aged individual’s awareness, wishes, and possible misconceptions of ECS as well as factors affecting their decision-making. Design Anonymous, electronic questionnaire conducted in 5 months. Setting Women’s Hospital of Nanjing Medical University, Jiangsu, China. Population Chinese reproductive-aged individuals …

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Prenatal diagnosis of sex chromosome mosaicism with two marker chromosomes in three cell lines and a review of the literature

Jianli Zheng, Xiaoyu Yang, Haiyan Lu, Yongjuan Guan et autres

The present study described the diagnosis of a fetus with sex chromosome mosaicism in three cell lines and two marker chromosomes. A 24‑year‑old woman underwent amniocentesis at 21 weeks and 4 days of gestation due to noninvasive prenatal testing identifying that the …

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