A5101710314- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- RNA Research and Splicing
- Genetic Mapping and Diversity in Plants and Animals
- Cancer-related molecular mechanisms research
- Genomics and Phylogenetic Studies
- Bioinformatics and Genomic Networks
- Genetic and phenotypic traits in livestock
- RNA and protein synthesis mechanisms
- Evolutionary Game Theory and Cooperation
- Genetic diversity and population structure
- Glioma Diagnosis and Treatment
- MicroRNA in disease regulation
- Epigenetics and DNA Methylation
- Mathematical and Theoretical Epidemiology and Ecology Models
- Genetic Associations and Epidemiology
- Genomics and Chromatin Dynamics
- Evolution and Genetic Dynamics
- Animal Genetics and Reproduction
Shanghai Jiao Tong University
2019-2025
Shanghai Children's Hospital
2016-2025
Cornell University
2006
Increasing evidence has indicated that lncRNAs acting as competing endogenous RNAs (ceRNAs) play crucial roles in tumorigenesis, metastasis and diagnosis of cancer. However, the function ceRNAs involved esophageal squamous cell carcinoma (ESCC) is still largely unknown. In this study, clinical implications two intrinsic subtypes ESCC were identified based on expression profiles lncRNA mRNA. subtype-specific differential co-expression networks between mRNAs constructed to reveal dynamic...
Importance Copy number variants (CNVs) and single-nucleotide variations (SNVs) or insertions deletions are key genetic contributors to neurodevelopmental disorders (NDDs). Traditionally, chromosome microarray exome sequencing (ES) have been used detect CNVs single gene variants, respectively. Objective To identify causing NDDs evaluate the diagnostic yield clinical utility of ES by simultaneously analyzing SNVs in patients with their biologic parents (trios). Design, Setting, Participants...
Abstract Precise classification of non-synonymous single nucleotide variants (SNVs) is a fundamental goal clinical genetics. Next-generation sequencing technology effective for establishing the basis genetic diseases. However, identification that are causal diseases remains challenge. We analyzed human SNVs from multilevel perspective to characterize pathogenicity. showed computational tools, though each having its own strength and weakness, tend be overly dependent on degree conservation....
Abstract Multilocus surveys of sequence variation can be used to identify targets directional selection, which are expected have reduced levels variation. Following a population bottleneck, the signal selection may hard detect because many loci low by chance and frequency spectrum perturbed in ways that resemble effects selection. Cultivated Sorghum bicolor contains subset genetic diversity found its wild ancestor(s) due combined domestication bottleneck human on traits associated with...
Long non-coding RNA overlapping with protein-coding gene (lncRNA-coding pair) is a special type of genes. Protein-coding genes have been well studied and increasing attention has paid to lncRNAs. By studying lncRNA-coding pairs in human genome, we showed that were more likely be generated by overprinting retaining given higher priority than non-overlapping Besides, the preference configurations preserved during evolution was based on origin pairs. Further investigations lncRNAs promoting...
From clinical observations to large-scale sequencing studies, the phenotypic impact of genetic modifiers is evident. To better understand full spectrum contribution human disease, concerted efforts are needed construct a useful modifier resource for interpreting information from data. Here, we present PhenoModifier (https://www.biosino.org/PhenoModifier), manually curated database that provides comprehensive overview modifiers. By curating over ten thousand published articles, 3078 records...
Understanding the roles of miRNAs in cardiovascular disease remains a challenge. Genomic linkage indicates functional relationship between intronic and their host genes. However, few studies have shown association coding genes that are genetically associated with disease.In this study, we investigated three protein-coding disease, i.e., CDH13, SLC12A3, CKAP5, using data-driven approach.We found functionally interact targets miRNAs, miR-3182, miR-6863, miR-5582, tissue-specific pattern. The...
Modifiers significantly impact disease phenotypes by modulating the effects of disease-causing variants, resulting in varying manifestations among individuals. However, identifying genetic interactions between modifier and variants is challenging.
Enhancers, as the genomic non-coding sequences, play a key role in activation of gene expression. They have been widely identified human genome. Pig is an important biomedical model for health. Few studies performed to explore enhancers pig The enhancer information may be useful identify In addition, genetic background traits could annotate and diseases. Thus, order further study their potential roles pig, we developed public database, ETph (Enhancers Targets human). integrates on enhancers,...
The prevalence of sexual reproduction ("sex") in eukaryotes is an enigma evolutionary biology. Sex increases genetic variation only tells its long-term superiority essence. accumulation harmful mutations causes immediate and ubiquitous pressure for organisms. Contrary to the common sense, our theoretical model suggests that reproductive rate can influence initiatively mutations. interaction integrated harm a critical R*. A population will become irreversibly extinct once reduces lower than...