A5101501447- Genomics and Rare Diseases
- Sexual Differentiation and Disorders
- Genomic variations and chromosomal abnormalities
- Bioinformatics and Genomic Networks
- RNA modifications and cancer
- Gene expression and cancer classification
- Genetic Associations and Epidemiology
- Genomics and Chromatin Dynamics
- Prenatal Screening and Diagnostics
- Biomedical Text Mining and Ontologies
- Cardiomyopathy and Myosin Studies
- Cancer Genomics and Diagnostics
- Esophageal and GI Pathology
- Protein Tyrosine Phosphatases
- Alzheimer's disease research and treatments
- Congenital heart defects research
- Carbohydrate Chemistry and Synthesis
- Bone and Dental Protein Studies
- Connexins and lens biology
- Protease and Inhibitor Mechanisms
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Galectins and Cancer Biology
- Computational Drug Discovery Methods
Xiamen University
2025
University of Chinese Academy of Sciences
2023-2024
Tianjin Medical University
2018-2024
Henan Institute of Science and Technology
2024
BGI Group (China)
2016-2023
BGI Genomics
2020-2023
Botswana Geoscience Institute
2020
Shandong University
2019
Software (Spain)
2019
Southwest University
2019
The identification of causative mutations is important for treatment decisions and genetic counseling patients with disorders sex development (DSD). Here, we designed a new assay based on targeted next-generation sequencing (NGS) to diagnose these genetically heterogeneous disorders. All coding regions flanking sequences 219 genes implicated in DSD were be included panel. A total 45 samples used chromosome dosage validation by using the NGS platform. Among these, 21 processed find mutation....
Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate utility WGS compared with chromosomal microarray (CMA) and whole exome (WES) fetal structural anomalies. We performed trio (≈40-fold) parallel CMA 111 fetuses or growth anomalies, sequentially WES when was negative (CMA plus WES). In comparison, not only detected all pathogenic...
Abstract Background Due to its reduced cost and incomparable advantages, WGS is likely lead changes in clinical diagnosis of rare undiagnosed diseases. However, the sensitivity breadth coverage as a diagnostic test for genetic disorders has not been fully evaluated. Methods Here, performance NA12878, YH cell line, Chinese trios were measured by assessing their sensitivity, PPV, depth using MGISEQ-2000. We also compared WES NA12878. The PPV tested family-based trio design trios. further...
Abstract Background Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. type 1F caused biallelic loss‐of‐function variants in Protocadherin 15 ( PCDH15 ), which encodes the protein that plays an important role morphogenesis cohesion of stereocilium bundles retinal photoreceptor cell maintenance function. Methods We report child with bilateral nonsyndromic sensorineural who received inconclusive diagnosis based on clinical gene...
Abstract Background With advances in massive parallel sequencing (MPS) technology, whole-genome (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing clinical WGS are lacking. Methods In this study, we introduced a whole disorders, which included entire process from obtaining sample to reporting. All samples that underwent were constructed using polymerase chain reaction (PCR)-free library preparation...
Discovering driver pathways is an essential task to understand the pathogenesis of cancer and design precise treatments for patients. Increasing evidences have been indicating that multiple often function cooperatively in carcinogenesis. In this study, we propose approach called CDPath discover cooperative pathways. first uses Integer Linear Programming explore core modules from mutation profiles by enforcing co-occurrence functional interaction relations between modules, maximizing mutual...
Abstract Discovering driver pathways is an essential step to uncover the molecular mechanism underlying cancer and explore precise treatments for patients. However, due difficulties of mapping genes limited knowledge about pathway interactions, most previous work focus on identifying individual pathways. In practice, two (or even more) interplay often cooperatively trigger cancer. this study, we proposed a new approach called CDPathway discover cooperative First, introduces impact...
Discovering driver pathways is becoming a key step to uncover the molecular mechanism underlying cancer and explore precise treatments for patients. Most of previous works focus on identifying individual pathways. In practice, multiple often cooperatively trigger cancer. this study, we propose new approach called CoDP discover cooperative firstly uses integrative nonnegative matrix factorization identify cancer-related comodules (composed with genes miRNAs) by fusing four types data,...
Abstract Background: Due to its reduced cost and incomparable advantages, WGS is likely lead changes in clinical diagnosis of rare undiagnosed diseases. However, the sensitivity breadth coverage as a diagnostic test for genetic disorders has not been fully evaluated. Here, performance NA12878, YH cell line, Chinese trios were measured by assessing their sensitivity, PPV, depth using MGISEQ-2000. We also compared WES NA12878. The PPV tested family-based trio design trios. further developed...
Background: Alzheimer’s disease (AD) and frontotemporal lobar degeneration (FTLD) account for the vast majority of neurodegenerative dementias. AD FTLD have different clinical phenotypes with a genetic overlap between them other Objective: This study aimed to identify spectrum sporadic in Chinese population. Methods: A total 74 29 participants were recruited. All underwent whole-exome sequencing (WES) testing hexanucleotide expansion C9orf72 was additionally performed negative WES results....
The carcinogenesis is typically involved with the cooperations of multiple pathways. Therefore, discovering cooperative driver pathways can provide more precise therapy to patients. Existing pathway identification methods only identify few (or previously well-known) pathways, because noisy or single type knowledge, insufficient attention cooperations. To address these problems, we develop a novel approach called CoPath that leverages genomic alteration profiles and bi-clustering discover...
Abstract Short stature is among the most common reasons for children being referred to pediatric endocrinology clinics. The cause of short broad, in which genetic factors play a substantial role, especially primary growth disorders. However, identifying molecular causes remains as challenge because high heterogeneity phenotypes. Here, whole exome sequencing (WES) was used identify with unknown etiology 20 patients aged from 1 16 years old. were identified 9 patients, corresponding diagnostic...
Abstract Background With the reduce of cost and incomparable advantages, WGS is likely to change way clinical diagnosis rare undiagnosed diseases. However, sensitivity breadth coverage as a diagnostic test for genetic disorders has not been fully evaluated, especially CNV detection. Methods All samples underwent using MGISEQ-2000. The performance NA12878, YH cell line, Chinese trios were measured sensitivity, PPV, depth coverage. We also compared WES NA12878. PPV tested family-based trio...
Abstract Background As an adjunct to diagnostic exome sequencing and whole-genome sequencing, RNA (RNA-seq) has been demonstrated improve yield for Mendelian diseases. However, systematic evaluation of the associated experimental computational processes establishment robust efficient practices diagnostics implemented in clinic analyse readily accessible whole blood samples are still required. Methods We simulated clinical conditions which each patient’s sample is tested only once, we...
Abstract Background A considerable number of patients suffering from neuromuscular disorders (NMD) are unable to receive an accurate diagnosis through initial genetic testing. It is imperative develop a cost-effective diagnostic strategy that incorporates appropriate multi-omics techniques. Methods This study included 33 NMD with negative results whole-exome sequencing (WES). Whole-genome (WGS) and RNA (RNA-seq) were performed concurrently evaluate clinical utility. Additionally, eight...
Purpose Cardiovascular diseases are the most common cause of death globally. In which atrioventricular block (AVB) is a disorder with genetic causes, but responsible genes have not been fully identified yet. To determine underlying causative involved in cardiac AVB, here we report three-generation Chinese family severe autosomal dominant AVB that has ruled out as being caused by known mutations. Methods Whole-exome sequencing was performed five affected members across three generations, and...