A5026965498- Single-cell and spatial transcriptomics
- CRISPR and Genetic Engineering
- Psoriasis: Treatment and Pathogenesis
- Cytokine Signaling Pathways and Interactions
- Genetics and Neurodevelopmental Disorders
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Genomics and Chromatin Dynamics
- Autism Spectrum Disorder Research
- Immune cells in cancer
- Retinal Imaging and Analysis
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- Retinal Diseases and Treatments
- Gut microbiota and health
- Genetic diversity and population structure
- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- Lysosomal Storage Disorders Research
- Retinoids in leukemia and cellular processes
- Bone health and osteoporosis research
- Leprosy Research and Treatment
- Mitochondrial Function and Pathology
- Cancer-related molecular mechanisms research
- Congenital heart defects research
BGI Group (China)
2013-2025
Central South University
2018-2025
Xiangya Hospital Central South University
2018-2025
BGI Research
2023-2025
Botswana Geoscience Institute
2024
Sanya University
2023
Tobacco Research Institute
2020-2021
BGI Genomics
2017-2020
Southern Medical University
2019
Jinan University
2016
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of extensive clinical genomic heterogeneity. Whole-genome sequencing (WGS) shows promise tool for identifying ASD risk genes well unreported mutations in known loci, but an assessment its full utility group has not been performed. We used WGS to examine 32 families with detect de novo or rare inherited variants predicted be deleterious...
Abstract Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform genome-wide exome-wide association study on 2,119 patients with exudative AMD 5,691 controls, independent replication 4,226 10,289 all East Asian descent, as part The Genetics Asians (GAMA) Consortium. We find strong between CETP Asp442Gly (rs2303790), an Asian-specific mutation, increased risk (odds ratio (OR)=1.70, P =5.60 × 10 −22 ). allele...
Abstract The gut microbiota influences host immunity and metabolism, changes in its composition function have been implicated several non‐communicable diseases. Here, comparing germ‐free (GF) specific pathogen‐free (SPF) mice using spatial transcriptomics, single‐cell RNA sequencing, targeted bile acid metabolomics across multiple organs, we systematically assessed how the microbiota's absence affected organ morphology, immune homeostasis, acid, lipid metabolism. Through integrated analysis,...
Significance Parkinson’s disease (PD) is the second most common neurodegenerative disorder in world. Several and rare genetic risk variants associated with PD pathogenesis have been identified, predominantly persons of European descent, but contributions to familial are largely unknown for Han Chinese. Here, we present a trio-based study explore association between de novo-altered genes early onset We found that 12 novo mutations were biologically connected each other likely be disease-risk...
Abstract Background Common and rare variants of guanosine triphosphate cyclohydrolase 1 ( GCH1 ) gene may play important roles in Parkinson’s disease (PD). However, there is a lack comprehensive analysis genotypes, especially non-coding regions. The aim this study was to explore the genetic characteristics , including common coding regions, large population PD patients Chinese mainland, as well phenotypic variant carriers. Methods In first cohort case-control study, we performed whole-exome...
Age-related macular degeneration (AMD) is a leading cause of irreversible central blindness among the elderly worldwide. We use exome sequencing to analyse nonsynonymous single-nucleotide variants (SNVs) across whole genome 216 neovascular AMD cases and 1,553 controls. As follow-up validation, we evaluate 3,772 6,942 controls from five independent cohorts in East Asian population. Here show strong evidence an association at novel, missense SNV, rs7739323, which located ubiquitin protein...
Background: Liver progenitor cells (LPCs) with bipotential differentiation capacities are essential for restoring liver homeostasis and hepatocyte population after damage. However, the low proportion shared markers epithelial make studying LPC heterogeneity difficult, especially in humans. To address this gap, we explored over 259,400 human single across 4 conditions (fetal, healthy, cirrhotic, HCC-affected livers). Methods: Human tissue samples were analyzed using spatial transcriptomics...
<title>Abstract</title> Molecular characterization of chicken cells is essential for understanding avian physiology and vertebrate evolution, yet an organism-wide single-cell atlas in still lacking. Here we describe a comprehensive reference the chicken, encompassing 1.57 million across 157 cell types from 36 tissues, along with spatial transcriptomic map embryo. By integrating it 0.23 newly generated 0.97 single 14 32 tissues turtle humans, respectively, systematically explored evolutionary...
Breast cancers present intricate microenvironments comprising heterotypic cellular interactions, yet a comprehensive spatial map remained to be established. Here, we employed the DNA nanoball-based genome-wide in situ sequencing (Stereo-seq) visualize geospatial architecture of 30 primary breast tumors and metastatic lymph nodes across different molecular subtypes. This unprecedented high-resolution atlas unveils fine structure tumor vasculature, highlighting heterogeneity phenotype,...
The order Acipenseriformes, which includes sturgeons and paddlefishes, represents "living fossils" with complex genomes that are good models for understanding whole-genome duplication (WGD) ploidy evolution in fishes. Here, we sequenced assembled the first high-quality chromosome-level genome octoploid Acipenser sinensis (Chinese sturgeon), a critically endangered species also poorly understood group Acipenseriformes. Our results show A. is autooctoploid containing four kinds of octovalents...
Abstract Sipuncula is a class of exocoelomic unsegmented animals whose evolutionary relationships are unresolved. The peanut worm Sipunculus nudus globally distributed, economically important species belonging to the Sipuncula. Herein, we present first high-quality chromosome-level assembly S. based on HiFi reads and high-resolution chromosome conformation capture (Hi-C) data. assembled genome was 1,427 Mb, with contig N50 length 29.46 Mb scaffold 80.87 Mb. Approximately 97.91% sequence...
The gut-liver axis is a complex bidirectional communication pathway between the intestine and liver in which microorganisms their metabolites flow from through portal vein to influence function. In sterile environment, phenotype or function of altered, but few studies have investigated specific cellular molecular effects on liver. To this end, we constructed single-cell spatial transcriptomic (ST) profiles germ-free (GF) specific-pathogen-free (SPF) mouse livers. Single-cell RNA sequencing...
Abstract Over the past 15 years, single-cell RNA sequencing (scRNA-seq) technology, in combination with other omics, has revealed mechanisms of human development, tumors, and complex diseases at genome, transcriptome, proteome levels. However, this approach fails to directly reflect relevant spatial information, such as cell location interactions. This limitation been addressed advancement high-resolution scRNA-seq transcriptomics (ST), which enables identification composition, intercellular...
The microRNA (miRNA) can regulate the transcripts that are involved in eukaryotic cell proliferation, differentiation, and metabolism. Especially for plants, our understanding of miRNA targets, is still limited. Early attempts prediction on sequence alignments have been plagued by enormous false positives. It helpful to improve target specificity incorporating other data sources such as dependency between transcript expression or even cleaved regulations, which referred trans-omics data. In...
Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. However, it is often misdiagnosed the wide spectrum of phenotypes. By exome sequencing, we make rapid genetic diagnosis for two atypical dopa-responsive pedigrees. One pedigree, presented prominent parkinsonism, was as Parkinson's disease until known mutation GCH1 (GTP cyclohydrolase 1) gene (NM_000161.2: c.631_632delAT, p.Met211ValfsX38)...
Tobacco use is one of the leading causes preventable disease worldwide. Genetic studies have elucidated numerous smoking-associated risk loci in American and European populations. However, genetic determinants for cigarette smoking Chinese populations are under investigated. In this study, a whole-genome sequencing (WGS)-based genome-wide association study (GWAS) was performed Han population comprising 620 smokers 564 nonsmokers. 13 single-nucleotide polymorphisms (SNPs) Raftlin lipid linker...
Genome-wide association studies, which detect the between single-nucleotide polymorphisms (SNPs) and disease susceptibility, have been extensively applied to study attention-deficit/hyperactivity disorder (ADHD), but genome-wide significant associations not found yet. Genetic heterogeneity insufficient genomic coverage may account for missing heritability. We performed a two-stage ADHD in Han Chinese population. In discovery stage, 1033 patients 950 healthy controls were genotyped using both...