Xuehan Zhuang
A5022945921- Cancer Genomics and Diagnostics
- Congenital gastrointestinal and neural anomalies
- Cancer-related gene regulation
- Congenital Anomalies and Fetal Surgery
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Esophageal Cancer Research and Treatment
- Genomics and Phylogenetic Studies
- Intestinal Malrotation and Obstruction Disorders
- Monoclonal and Polyclonal Antibodies Research
- T-cell and B-cell Immunology
- Congenital heart defects research
- Molecular Biology Techniques and Applications
- Cervical Cancer and HPV Research
- Evolution and Genetic Dynamics
- Hemoglobinopathies and Related Disorders
- Viral-associated cancers and disorders
- Bladder and Urothelial Cancer Treatments
- Cystic Fibrosis Research Advances
- Urinary and Genital Oncology Studies
- Hepatitis C virus research
- Medical Imaging and Pathology Studies
- Hippo pathway signaling and YAP/TAZ
- Hepatitis B Virus Studies
University of Hong Kong
2018-2024
Peking University Shenzhen Hospital
2022-2024
Hong Kong University of Science and Technology
2022-2024
University of Hong Kong - Shenzhen Hospital
2022-2024
Shenzhen Bay Laboratory
2022-2024
Chinese University of Hong Kong
2020
BGI Group (China)
2013-2016
Esophageal squamous cell carcinoma (ESCC) is one of the most common cancers worldwide and fourth lethal cancer in China. However, although genomic studies have identified some mutations associated with ESCC, we know little mutational processes responsible. To identify genome-wide signatures, performed either whole-genome sequencing (WGS) or whole-exome (WES) on 104 ESCC individuals combined our data those 88 previously reported samples. An APOBEC-mediated signature 47% 192 tumors suggests...
// Song Wu 1,4,* , Zhao Yang 2,3,* Rui Ye 5,* Dan An Chong Li 2,* Yitian Wang 4,6,* Yongqiang 7 Yi Huang 4 Huan Liu 5 Feida Luyun He 2 Da Sun Yuan Yu Qiaoling Peide Meng Zhang 6 Xin Tengteng Bi Xuehan Zhuang Liyan Jingxiao Lu Xiaojuan Fangjian Zhou Chunxiao 8 Guosheng 9 Yong Hou Zusen Fan and Zhiming Cai 4,6 1 The Affiliated Luohu Hospital of Shenzhen University, Group, Shenzhen, China CAS Key Laboratory Infection Immunity, Institute Biophysics, Chinese Academy Sciences, Beijing, 3...
Traditional carrier screening has been utilized for the detection of carriers genetic disorders. Since a comprehensive assessment frequencies recessive conditions in Southern Chinese population is not yet available, we performed secondary analysis on spectrum and status 315 genes causing autosomal disorders 1543 individuals with next-generation sequencing data, 1116 exome 427 genome data. Our data revealed that 1 2 people (47.8% population) was one or more conditions, 12 (8.30% treatable...
Esophageal squamous cell carcinoma (ESCC) demonstrates high genome instability. Here, we analyze 528 whole genomes to investigate structural variations' mechanisms and biological functions. SVs show multi-mode distributions in size, indicating distinct mutational processes. We develop a tool define five types of complex rearrangements with templated insertions. highlight type fold-back inversion, which is associated poor outcomes. Distinct rearrangement signatures demonstrate variable...
Despite an increase in the number of molecular epidemiological studies conducted recent years to evaluate association between human papillomavirus (HPV) and risk breast carcinoma, these remain inconclusive. Here we aim detect HPV DNA various tissues from patients with carcinoma using method capture combined massive paralleled sequencing (MPS). To validate confidence our methods, 15 cervical cancer samples were tested by PCR new method. Results showed that there was 100% consistence two...
Abstract Detection of copy number variations (CNVs) is essential for uncovering genetic factors underlying human diseases. However, CNV detection by current methods prone to error, and precisely identifying CNVs from paired-end whole genome sequencing (WGS) data still challenging. Here, we present a framework, CNV-JACG, Judging the Accuracy Genotyping using WGS data. CNV-JACG based on random forest model trained 21 distinctive features characterizing region its breakpoints. Using 1000...
Abstract Background Mitochondria play essential roles in tumorigenesis; however, little is known about the contribution of mitochondrial DNA (mtDNA) to esophageal squamous cell carcinoma (ESCC). Whole-genome sequencing (WGS) by far most efficient technology fully characterize molecular features mtDNA; due high redundancy and heterogeneity mtDNA regular WGS data, methods for analysis are from satisfactory. Methods Here, we developed a likelihood-based method dMTLV identify low-heteroplasmic...
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect, yet underlying genetic mechanisms remain poorly understood. Here, we performed whole-genome sequencing analysis on 146 nonsyndromic TOF parent-offspring trios Chinese ethnicity. Comparison de novo variants and recessive genotypes this data set with from a European cohort identified both overlapping potentially novel gene loci revealed differential functional enrichment between cohorts. To assess impact these mutations early...
Background: Cases of multiple tumors are rarely reported in China. In our study, a 57-year-old female patient had concurrent squamous cell carcinoma, mucoepidermoid brain cancer, bone and thyroid which has been to date. Methods: To determine the relationship among these cancers, available DNA samples from thyroid, lung, skin normal tissue were sequenced using whole exome sequencing. Results: The notable discrepancies somatic mutations 3 tumor tissues indicated that they arose independently,...
Resistance to apoptosis in esophageal squamous cell carcinoma (ESCC) constitutes a significant impediment treatment efficacy. Exploring alternative death pathways and their regulatory factors beyond is crucial for overcoming drug resistance enhancing therapeutic outcomes ESCC.
Abstract As next-generation sequencing (NGS) and liquid biopsy become more prevalent in research the clinic, there is an increasing need for better methods to reduce cost improve sensitivity specificity of low-frequency mutation detection (where Alternative Allele Frequency, or AAF, less than 1%). Here we propose a likelihood-based approach, called Low-Frequency Mutation Detector (LFMD), which combines advantages duplex (DS) bottleneck system (BotSeqS) maximize utilization duplicate reads....